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Bloom syndrome(BLM)

MedGen UID:
2685
Concept ID:
C0005859
Disease or Syndrome
Synonyms: BLM; Bloom-Torre-Machacek syndrome; Growth deficiency, sun-sensitive, telangiectatic, hypo and hyperpigmented skin, predisposition to malignancy and chromosomal instability
SNOMED CT: BS - Bloom syndrome (4434006); Bloom syndrome (4434006); Congenital telangiectatic erythema syndrome (4434006)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): BLM (15q26.1)
 
Monarch Initiative: MONDO:0008876
OMIM®: 210900
Orphanet: ORPHA125

Definition

Bloom syndrome (BSyn) is characterized by severe pre- and postnatal growth deficiency, immune abnormalities, sensitivity to sunlight, insulin resistance, and a high risk for many cancers that occur at an early age. Despite their very small head circumference, most affected individuals have normal intellectual ability. Women may be fertile but often have early menopause, and men tend to be infertile, with only one confirmed case of paternity. Serious medical complications that are more common than in the general population and that also appear at unusually early ages include chronic obstructive pulmonary disease, diabetes mellitus as a result of insulin resistance, and cancer of a wide variety of types and anatomic sites. [from GeneReviews]

Additional descriptions

From OMIM
Bloom syndrome (BLM) is an autosomal recessive disorder characterized by prenatal and postnatal growth deficiency; photosensitive skin changes; immune deficiency; insulin resistance; increased risk for diabetes; greatly increased risk of early onset of cancer and for the development of multiple cancers; and chromosomal instability (summary by Cunniff et al., 2017). Genetic Heterogeneity of Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange See also MGRISCE2 (618097), caused by mutation in the TOP3A gene (601243) on chromosome 17p12.  http://www.omim.org/entry/210900
From MedlinePlus Genetics
Bloom syndrome is an inherited disorder characterized by short stature, a skin rash that develops after exposure to the sun, and a greatly increased risk of cancer.

People with Bloom syndrome are usually smaller than 97 percent of the population in both height and weight from birth, and they rarely exceed 5 feet tall in adulthood.

Affected individuals have skin that is sensitive to sun exposure, and they usually develop a butterfly-shaped patch of reddened skin across the nose and cheeks. A skin rash can also appear on other areas that are typically exposed to the sun, such as the back of the hands and the forearms. Small clusters of enlarged blood vessels (telangiectases) often appear in the rash; telangiectases can also occur in the eyes. Other skin features include patches of skin that are lighter or darker than the surrounding areas (hypopigmentation or hyperpigmentation respectively). These patches appear on areas of the skin that are not exposed to the sun, and their development is not related to the rashes.

People with Bloom syndrome have an increased risk of cancer. They can develop any type of cancer, but the cancers arise earlier in life than they do in the general population, and affected individuals often develop more than one type of cancer.

Individuals with Bloom syndrome have a high-pitched voice and distinctive facial features including a long, narrow face; a small lower jaw; and prominent nose and ears. Other features can include learning disabilities, an increased risk of diabetes, chronic obstructive pulmonary disease (COPD), and mild immune system abnormalities leading to recurrent infections of the upper respiratory tract, ears, and lungs during infancy. Men with Bloom syndrome usually do not produce sperm and as a result are unable to father children (infertile). Women with the disorder generally have reduced fertility and experience menopause at an earlier age than usual.  https://medlineplus.gov/genetics/condition/bloom-syndrome

Clinical features

From HPO
Squamous cell carcinoma
MedGen UID:
2874
Concept ID:
C0007137
Neoplastic Process
The presence of squamous cell carcinoma of the skin.
Leukemia
MedGen UID:
9725
Concept ID:
C0023418
Neoplastic Process
A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes.
Lymphoma
MedGen UID:
44223
Concept ID:
C0024299
Neoplastic Process
A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells.
Azoospermia
MedGen UID:
2150
Concept ID:
C0004509
Disease or Syndrome
Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet.
Cryptorchidism
MedGen UID:
8192
Concept ID:
C0010417
Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
Decreased fertility in females
MedGen UID:
57728
Concept ID:
C0151639
Finding
Syndactyly
MedGen UID:
52619
Concept ID:
C0039075
Congenital Abnormality
Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as "symphalangism".
Hand polydactyly
MedGen UID:
510636
Concept ID:
C0158733
Congenital Abnormality
A kind of polydactyly characterized by the presence of a supernumerary finger or fingers.
Clinodactyly of the 5th finger
MedGen UID:
340456
Concept ID:
C1850049
Congenital Abnormality
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Fetal growth restriction
MedGen UID:
4693
Concept ID:
C0015934
Pathologic Function
An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
Small for gestational age
MedGen UID:
65920
Concept ID:
C0235991
Finding
Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.
Growth delay
MedGen UID:
99124
Concept ID:
C0456070
Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
Postnatal growth retardation
MedGen UID:
395343
Concept ID:
C1859778
Finding
Slow or limited growth after birth.
Hepatic steatosis
MedGen UID:
398225
Concept ID:
C2711227
Disease or Syndrome
Steatosis is a term used to denote lipid accumulation within hepatocytes.
Protruding ear
MedGen UID:
343309
Concept ID:
C1855285
Finding
Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).
Intellectual disability, mild
MedGen UID:
10044
Concept ID:
C0026106
Mental or Behavioral Dysfunction
Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
High pitched voice
MedGen UID:
66836
Concept ID:
C0241703
Finding
An abnormal increase in the pitch (frequency) of the voice.
Specific learning disability
MedGen UID:
871302
Concept ID:
C4025790
Mental or Behavioral Dysfunction
Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.
Elevated hemoglobin A1c
MedGen UID:
892798
Concept ID:
C4073162
Finding
An increased concentration of hemoglobin A1c (HbA1c), which is the product of nonenzymatic attachment of a hexose molecule to the N-terminal amino acid of the hemoglobin molecule. This reaction is dependent on blood glucose concentration, and therefore reflects the mean glucose concentration over the previous 8 to 12 weeks. The HbA1c level provides a better indication of long-term glycemic control than one-time blood or urinary glucose measurements.
Dolichocephaly
MedGen UID:
65142
Concept ID:
C0221358
Congenital Abnormality
An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.
Malar flattening
MedGen UID:
347616
Concept ID:
C1858085
Finding
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Bronchiectasis
MedGen UID:
14234
Concept ID:
C0006267
Disease or Syndrome
Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.
Recurrent upper respiratory tract infections
MedGen UID:
154380
Concept ID:
C0581381
Disease or Syndrome
An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).
Chronic lung disease
MedGen UID:
196656
Concept ID:
C0746102
Disease or Syndrome
According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities.
Decreased circulating IgA level
MedGen UID:
57934
Concept ID:
C0162538
Disease or Syndrome
Decreased levels of immunoglobulin A (IgA).
Decreased circulating total IgM
MedGen UID:
116095
Concept ID:
C0239989
Finding
An abnormally decreased level of immunoglobulin M (IgM) in blood.
Malar rash
MedGen UID:
75808
Concept ID:
C0277942
Finding
An erythematous (red), flat facial rash that affects the skin in the malar area (over the cheekbones) and extends over the bridge of the nose.
Decreased circulating IgG level
MedGen UID:
1720114
Concept ID:
C5234937
Finding
An abnormally decreased level of immunoglobulin G (IgG) in blood.
Type 2 diabetes mellitus
MedGen UID:
41523
Concept ID:
C0011860
Disease or Syndrome
Type 2 diabetes mellitus is distinct from maturity-onset diabetes of the young (see 606391) in that it is polygenic, characterized by gene-gene and gene-environment interactions with onset in adulthood, usually at age 40 to 60 but occasionally in adolescence if a person is obese. The pedigrees are rarely multigenerational. The penetrance is variable, possibly 10 to 40% (Fajans et al., 2001). Persons with type 2 diabetes usually have an obese body habitus and manifestations of the so-called metabolic syndrome (see 605552), which is characterized by diabetes, insulin resistance, hypertension, and hypertriglyceridemia. Genetic Heterogeneity of Susceptibility to Type 2 Diabetes Susceptibility to T2D1 (601283) is conferred by variation in the calpain-10 gene (CAPN10; 605286) on chromosome 2q37. The T2D2 locus (601407) on chromosome 12q was found in a Finnish population. The T2D3 locus (603694) maps to chromosome 20. The T2D4 locus (608036) maps to chromosome 5q34-q35. Susceptibility to T2D5 (616087) is conferred by variation in the TBC1D4 gene (612465) on chromosome 13q22. A mutation has been observed in hepatocyte nuclear factor-4-alpha (HNF4A; 600281.0004) in a French family with NIDDM of late onset. Mutations in the NEUROD1 gene (601724) on chromosome 2q32 were found to cause type 2 diabetes mellitus in 2 families. Mutation in the GLUT2 glucose transporter was associated with NIDDM in 1 patient (138160.0001). Mutation in the MAPK8IP1 gene, which encodes the islet-brain-1 protein, was found in a family with type 2 diabetes in individuals in 4 successive generations (604641.0001). Polymorphism in the KCNJ11 gene (600937.0014) confers susceptibility. In French white families, Vionnet et al. (2000) found evidence for a susceptibility locus for type 2 diabetes on 3q27-qter. They confirmed the diabetes susceptibility locus on 1q21-q24 reported by Elbein et al. (1999) in whites and by Hanson et al. (1998) in Pima Indians. A mutation in the GPD2 gene (138430.0001) on chromosome 2q24.1, encoding mitochondrial glycerophosphate dehydrogenase, was found in a patient with type 2 diabetes mellitus and in his glucose-intolerant half sister. Mutations in the PAX4 gene (167413) have been identified in patients with type 2 diabetes. Triggs-Raine et al. (2002) stated that in the Oji-Cree, a gly319-to-ser change in HNF1-alpha (142410.0008) behaves as a susceptibility allele for type 2 diabetes. Mutation in the HNF1B gene (189907.0007) was found in 2 Japanese patients with typical late-onset type 2 diabetes. Mutations in the IRS1 gene (147545) have been found in patients with type 2 diabetes. A missense mutation in the AKT2 gene (164731.0001) caused autosomal dominant type 2 diabetes in 1 family. A (single-nucleotide polymorphism) SNP in the 3-prime untranslated region of the resistin gene (605565.0001) was associated with susceptibility to diabetes and to insulin resistance-related hypertension in Chinese subjects. Susceptibility to insulin resistance has been associated with polymorphism in the TCF1 (142410.0011), PPP1R3A (600917.0001), PTPN1 (176885.0001), ENPP1 (173335.0006), IRS1 (147545.0002), and EPHX2 (132811.0001) genes. The K121Q polymorphism of ENPP1 (173335.0006) is associated with susceptibility to type 2 diabetes; a haplotype defined by 3 SNPs of this gene, including K121Q, is associated with obesity, glucose intolerance, and type 2 diabetes. A SNP in the promoter region of the hepatic lipase gene (151670.0004) predicts conversion from impaired glucose tolerance to type 2 diabetes. Variants of transcription factor 7-like-2 (TCF7L2; 602228.0001), located on 10q, have also been found to confer risk of type 2 diabetes. A common sequence variant, rs10811661, on chromosome 9p21 near the CDKN2A (600160) and CDKN2B (600431) genes has been associated with risk of type 2 diabetes. Variation in the PPARG gene (601487) has been associated with risk of type 2 diabetes. A promoter polymorphism in the IL6 gene (147620) is associated with susceptibility to NIDDM. Variation in the KCNJ15 gene (602106) has been associated with T2DM in lean Asians. Variation in the SLC30A8 gene (611145) has been associated with susceptibility to T2D. Variation in the HMGA1 gene (600701.0001) is associated with an increased risk of type 2 diabetes. Mutation in the MTNR1B gene (600804) is associated with susceptibility to type 2 diabetes. Protection Against Type 2 Diabetes Mellitus Protein-truncating variants in the SLC30A8 (611145) have been associated with a reduced risk for T2D.
Prominent nose
MedGen UID:
98423
Concept ID:
C0426415
Finding
Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip.
Narrow face
MedGen UID:
373334
Concept ID:
C1837463
Finding
Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective).
Agenesis of maxillary lateral incisor
MedGen UID:
342374
Concept ID:
C1849950
Finding
Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor and maxillary lateral secondary incisor.
Hypertrichosis
MedGen UID:
43787
Concept ID:
C0020555
Disease or Syndrome
Hypertrichosis is increased hair growth that is abnormal in quantity or location.
Hypopigmentation of the skin
MedGen UID:
102477
Concept ID:
C0162835
Disease or Syndrome
A reduction of skin color related to a decrease in melanin production and deposition.
Cafe-au-lait spot
MedGen UID:
113157
Concept ID:
C0221263
Finding
Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children.
Facial erythema
MedGen UID:
65986
Concept ID:
C0239488
Finding
Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin.
Cutaneous photosensitivity
MedGen UID:
87601
Concept ID:
C0349506
Pathologic Function
An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.
Spotty hypopigmentation
MedGen UID:
812508
Concept ID:
C3806178
Finding
Facial telangiectasia in butterfly midface distribution
MedGen UID:
867272
Concept ID:
C4021632
Finding
Telangiectases (small dilated blood vessels) located near the surface of the skin in a butterfly midface distribution.
Chromosome breakage
MedGen UID:
91280
Concept ID:
C0376628
Cell or Molecular Dysfunction
Elevated rate of chromosomal breakage or interchanges occurring either spontaneously or following exposure to various DNA-damaging agents. This feature may be assayed by treatment of cultured lymphocytes with agents such as chemical mutagens, irradiation, and alkylating agents.
Abnormality of chromosome stability
MedGen UID:
1631925
Concept ID:
C4551705
Cell or Molecular Dysfunction
A type of chromosomal aberration characterized by reduced resistance of chromosomes to change or deterioration.

Professional guidelines

PubMed

Cunniff C, Djavid AR, Carrubba S, Cohen B, Ellis NA, Levy CF, Jeong S, Lederman HM, Vogiatzi M, Walsh MF, Zauber AG
Am J Med Genet A 2018 Sep;176(9):1872-1881. Epub 2018 Jul 28 doi: 10.1002/ajmg.a.40374. PMID: 30055079
Meyer R, Soellner L, Begemann M, Dicks S, Fekete G, Rahner N, Zerres K, Elbracht M, Eggermann T
J Pediatr 2017 Aug;187:206-212.e1. Epub 2017 May 19 doi: 10.1016/j.jpeds.2017.04.018. PMID: 28529015
ACOG Committee on Genetics
Obstet Gynecol 2004 Aug;104(2):425-8. doi: 10.1097/00006250-200408000-00050. PMID: 15292027

Curated

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Esophageal and Esophagogastric Junction Cancers, 2024

American College of Medical Genetics ACT Sheet, Carrier Screening ACT Sheet Ashkenazi Jewish Genetic Disorders

Suggested Reading

Recent clinical studies

Etiology

Monnat RJ Jr
Cells 2024 Jun 21;13(13) doi: 10.3390/cells13131077. PMID: 38994931Free PMC Article
Schierbeck J, Vestergaard T, Bygum A
Acta Derm Venereol 2019 Apr 1;99(4):360-369. doi: 10.2340/00015555-3123. PMID: 30653245
Scheibye-Knudsen M
Dan Med J 2016 Nov;63(11) PMID: 27808039
Boisvert RA, Howlett NG
Cell Cycle 2014;13(19):2999-3015. doi: 10.4161/15384101.2014.956475. PMID: 25486561Free PMC Article
Arora H, Chacon AH, Choudhary S, McLeod MP, Meshkov L, Nouri K, Izakovic J
Int J Dermatol 2014 Jul;53(7):798-802. Epub 2014 Mar 6 doi: 10.1111/ijd.12408. PMID: 24602044

Diagnosis

Gupta N, Huang TT, Nair JR, An D, Zurcher G, Lampert EJ, McCoy A, Cimino-Mathews A, Swisher EM, Radke MR, Lockwood CM, Reichel JB, Chiang CY, Wilson KM, Cheng KC, Nousome D, Lee JM
Sci Transl Med 2023 Jun 21;15(701):eadd7872. doi: 10.1126/scitranslmed.add7872. PMID: 37343085Free PMC Article
Maciaszek JL, Oak N, Nichols KE
Hum Mol Genet 2020 Oct 20;29(R2):R138-R149. doi: 10.1093/hmg/ddaa091. PMID: 32412586
Schierbeck J, Vestergaard T, Bygum A
Acta Derm Venereol 2019 Apr 1;99(4):360-369. doi: 10.2340/00015555-3123. PMID: 30653245
Schoenaker MHD, Henriet SS, Zonderland J, van Deuren M, Pan-Hammarström Q, Posthumus-van Sluijs SJ, Pico-Knijnenburg I, Weemaes CMR, IJspeert H
J Clin Immunol 2018 Jan;38(1):35-44. Epub 2017 Nov 2 doi: 10.1007/s10875-017-0454-y. PMID: 29098565Free PMC Article
Väliaho J, Riikonen P, Vihinen M
Immunol Rev 2000 Dec;178:177-85. doi: 10.1034/j.1600-065x.2000.17807.x. PMID: 11213802

Therapy

Huang M, Chen L, Guo Y, Ruan Y, Xu H
J Transl Med 2023 Jul 6;21(1):445. doi: 10.1186/s12967-023-04288-z. PMID: 37415147Free PMC Article
Gupta N, Huang TT, Nair JR, An D, Zurcher G, Lampert EJ, McCoy A, Cimino-Mathews A, Swisher EM, Radke MR, Lockwood CM, Reichel JB, Chiang CY, Wilson KM, Cheng KC, Nousome D, Lee JM
Sci Transl Med 2023 Jun 21;15(701):eadd7872. doi: 10.1126/scitranslmed.add7872. PMID: 37343085Free PMC Article
Mo D, Zhao Y, Balajee AS
Cancer Lett 2018 Jan 28;413:1-10. Epub 2017 Nov 7 doi: 10.1016/j.canlet.2017.10.021. PMID: 29080750
Kahn G
Dermatol Clin 1986 Jan;4(1):107-16. PMID: 3521976
Ramsay CA
Pediatr Clin North Am 1983 Aug;30(4):687-99. doi: 10.1016/s0031-3955(16)34434-0. PMID: 6351001

Prognosis

Lee J, Zhang J, Flanagan M, Martinez JA, Cunniff C, Kucine N, Lu AT, Haghani A, Gordevičius J, Horvath S, Chang VY
Aging Cell 2023 Oct;22(10):e13964. Epub 2023 Aug 18 doi: 10.1111/acel.13964. PMID: 37594403Free PMC Article
Huang M, Chen L, Guo Y, Ruan Y, Xu H
J Transl Med 2023 Jul 6;21(1):445. doi: 10.1186/s12967-023-04288-z. PMID: 37415147Free PMC Article
Gupta N, Huang TT, Nair JR, An D, Zurcher G, Lampert EJ, McCoy A, Cimino-Mathews A, Swisher EM, Radke MR, Lockwood CM, Reichel JB, Chiang CY, Wilson KM, Cheng KC, Nousome D, Lee JM
Sci Transl Med 2023 Jun 21;15(701):eadd7872. doi: 10.1126/scitranslmed.add7872. PMID: 37343085Free PMC Article
Arora H, Chacon AH, Choudhary S, McLeod MP, Meshkov L, Nouri K, Izakovic J
Int J Dermatol 2014 Jul;53(7):798-802. Epub 2014 Mar 6 doi: 10.1111/ijd.12408. PMID: 24602044
Holman JD, Dyer JA
Curr Opin Pediatr 2007 Aug;19(4):446-54. doi: 10.1097/MOP.0b013e3282495939. PMID: 17630610

Clinical prediction guides

Lee J, Zhang J, Flanagan M, Martinez JA, Cunniff C, Kucine N, Lu AT, Haghani A, Gordevičius J, Horvath S, Chang VY
Aging Cell 2023 Oct;22(10):e13964. Epub 2023 Aug 18 doi: 10.1111/acel.13964. PMID: 37594403Free PMC Article
Gupta N, Huang TT, Nair JR, An D, Zurcher G, Lampert EJ, McCoy A, Cimino-Mathews A, Swisher EM, Radke MR, Lockwood CM, Reichel JB, Chiang CY, Wilson KM, Cheng KC, Nousome D, Lee JM
Sci Transl Med 2023 Jun 21;15(701):eadd7872. doi: 10.1126/scitranslmed.add7872. PMID: 37343085Free PMC Article
Vines AJ, Cox K, Leland BA, King MC
Mol Biol Cell 2022 Apr 1;33(4):ar30. Epub 2022 Jan 26 doi: 10.1091/mbc.E20-07-0433. PMID: 35080989Free PMC Article
Suhasini AN, Brosh RM Jr
Mutat Res 2013 Apr-Jun;752(2):138-152. Epub 2012 Dec 28 doi: 10.1016/j.mrrev.2012.12.004. PMID: 23276657Free PMC Article
Schroeder TM
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    Curated

    • NCCN, 2024
      NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Esophageal and Esophagogastric Junction Cancers, 2024
    • ACMG ACT, 2011
      American College of Medical Genetics ACT Sheet, Carrier Screening ACT Sheet Ashkenazi Jewish Genetic Disorders

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