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Select item 79038891.

Identification and characterization of novel ACD variants: modulation of TPP1 protein level offsets the impact of germline loss-of-function variants on telomere length

Gabrielle Henslee, Christopher L. Williams, Pengfei Liu, Alison A. Bertuch

Cold Spring Harb Mol Case Stud. 2021 Feb; 7(1): a005454. doi: 10.1101/mcs.a005454

PMCID:: PMC7903889

Abstract Article PDF–9.5M

Select item 75394232.

Fraternal twins with Phelan-McDermid syndrome not involving the SHANK3 gene: case report and literature review

Shan Li, Ke-wang Xi, Ting Liu, Ying Zhang, Meng Zhang, Li-dong Zeng, Juan Li

BMC Med Genomics. 2020; 13: 146. Published online 2020 Oct 6. doi: 10.1186/s12920-020-00802-0

PMCID:: PMC7539423

Abstract Article PDF–4.4M

Select item 18912773.

Ellis-Van Creveld syndrome

Geneviève Baujat, Martine Le Merrer

Orphanet J Rare Dis. 2007; 2: 27. Published online 2007 Jun 4. doi: 10.1186/1750-1172-2-27

PMCID:: PMC1891277

Abstract Article PDF–449K

Select item 24130934.

How are podocytes affected in nail–patella syndrome?

Ralph Witzgall

Pediatr Nephrol. 2008; 23(7): 1017–1020. Published online 2008 Jul 1. doi: 10.1007/s00467-007-0714-9

PMCID:: PMC2413093

Abstract Article PDF–153K

Select item 79493625.

Diagnosing nail-patella syndrome: can it be so simple?

Rohit Sasidharan, Neeraj Gupta, Nisha Toteja, Bharti Yadav

BMJ Case Rep. 2021; 14(3): e241833. Published online 2021 Mar 10. doi: 10.1136/bcr-2021-241833

PMCID:: PMC7949362

Abstract Article PDF–370K

Select item 111550606.

Novel homozygous frameshift insertion variant in the last exon of the EDARADD causing hypohidrotic ectodermal dysplasia in two siblings: case report and review of the literature

Ahmet Kablan, Elifcan Tasdelen

Ital J Pediatr. 2024; 50: 112. Published online 2024 Jun 5. doi: 10.1186/s13052-024-01681-2

PMCID:: PMC11155060

Abstract Article PDF–1.1M

Select item 107675787.

Identification of a novel LMX1B nonsense variant associated with congenital talipes equinovarus by prenatal exome sequencing: A case report

Jing Chen, Qinqin Xiang, Xiao Xiao, Bocheng Xu, Hanbing Xie, He Wang, Mei Yang, Shanling Liu

Mol Genet Genomic Med. 2024 Jan; 12(1): e2303. Published online 2023 Nov 6. doi: 10.1002/mgg3.2303

PMCID:: PMC10767578

Abstract Article PDF–2.9M

Select item 106446058.

Occurrence of mosaic trisomy 22 and pericentric inversion of chromosome 9 in a patient with a good prognosis

Aline Nardelli, Larissa Valéria Laskoski, Andressa Fernanda Luiz, Maruhen Amir Datsch Silveira, Luciana Paula Grégio d’Arce

BMC Med Genomics. 2023; 16: 286. Published online 2023 Nov 13. doi: 10.1186/s12920-023-01709-2

PMCID:: PMC10644605

Abstract Article PDF–845K

Select item 105470599.

The Ectodermal Dysplasias-Burden of Disease Score: Development and Validation of an Ectodermal Dysplasia Family/Parental Burden Score

Hélène DUFRESNE, Oriane MAINCENT, Charles TAIEB, Christine BODEMER, Smail HADJ-RABIA

Acta Derm Venereol. 2023; 103: 5203. Published online 2023 Aug 30. doi: 10.2340/actadv.v103.5203

PMCID:: PMC10547059

Abstract Article PDF–321K

Select item 1049677810.

45,X/46,XY mosaicism: report on 14 patients from a Brazilian hospital. A retrospective study

Rafael Fabiano Machado Rosa, Willy Francisco Bartel D'Ecclesiis, Raquel Papandreus Dibbi, Rosana Cardoso Manique Rosa, Patrícia Trevisan, Carla Graziadio, Giorgio Adriano Paskulin, Paulo Ricardo Gazzola Zen

Sao Paulo Med J. 2014; 132(6): 332–338. Published online 2014 Sep 2. doi: 10.1590/1516-3180-2014-1326729

PMCID:: PMC10496778

Abstract Article PDF–197K

Select item 1045425111.

Characterization of the Molecular Events Underlying the Establishment of Axillary Meristem Region in Pepper

Haoran Wang, Sujun Liu, Shijie Ma, Yun Wang, Hanyu Yang, Jiankun Liu, Mingxuan Li, Xiangyun Cui, Sun Liang, Qing Cheng, Huolin Shen

Int J Mol Sci. 2023 Aug; 24(16): 12718. Published online 2023 Aug 12. doi: 10.3390/ijms241612718

PMCID:: PMC10454251

Abstract Article PDF–11M

Select item 995704312.

Homozygous Missense Variant in the Solute Carrier Organic Anion Transporter 2A1 (SLCO2A1) Gene Underlies Isolated Nail Clubbing

Muhammad Umair, Muhammad Bilal, Khadim Shah, Gulab Said, Farooq Ahmad

Genes (Basel) 2023 Feb; 14(2): 430. Published online 2023 Feb 8. doi: 10.3390/genes14020430

PMCID:: PMC9957043

Abstract Article PDF–1.5M

Select item 985853313.

Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2, BBS7, and EVC2 Mutations

Piranit Kantaputra, Prapai Dejkhamron, Rekwan Sittiwangkul, Kamornwan Katanyuwong, Chumpol Ngamphiw, Nuntigar Sonsuwan, Worrachet Intachai, Sissades Tongsima, Philip L. Beales, Worakanya Buranaphatthana

Genes (Basel) 2023 Jan; 14(1): 84. Published online 2022 Dec 27. doi: 10.3390/genes14010084

PMCID:: PMC9858533

Abstract Article PDF–2.0M

Select item 969058714.

Congenital Nail Disorders among Children with Suspected Ectodermal Dysplasias

Sigrun Maier-Wohlfart, Carmen Aicher, Ines Willershausen, Nicolai Peschel, Udo Meißner, Lina Gölz, Holm Schneider

Genes (Basel) 2022 Nov; 13(11): 2119. Published online 2022 Nov 15. doi: 10.3390/genes13112119

PMCID:: PMC9690587

Abstract Article PDF–1.8M

Select item 966273815.

Witch Nails (Krt90^whnl): A spontaneous mouse mutation affecting nail growth and development

John P. Sundberg, Hannah Galantino-Homer, Heather Fairfield, Patricia F. Ward-Bailey, Belinda S. Harris, Melissa Berry, C. Herbert Pratt, Nicholas E. Gott, Lesley S. Bechtold, Pauline R. Kaplan, Blythe P. Durbin-Johnson, David M. Rocke, Robert H. Rice

PLoS One. 2022; 17(11): e0277284. Published online 2022 Nov 14. doi: 10.1371/journal.pone.0277284

PMCID:: PMC9662738

Abstract Article PDF–4.4M

Select item 955990616.

Focal Dermal Hypoplasia with Osteopathia Striata

Shefa S. Almashaqbeh, Diana S. Aljammal, Hend M. Alharahsheh, Samer F. Alqudah, Rana A. Alkrimeen

Med Arch. 2022 Aug; 76(4): 301–304. doi: 10.5455/medarh.2022.76.301-304

PMCID:: PMC9559906

Abstract Article PDF–277K

Select item 954540017.

Expanding the novel MAPKAPK5–related developmental disorder's genotype–phenotype correlation: Patient report and 19 months of follow‐up

Davide Vecchio, Dario Cocciadiferro, Marina Macchiaiolo, Michaela Veronika Gonfiantini, Emanuele Agolini, Marta Matraxia, Alessia Carboni, Antonella Coretti, Andrea Villani, Filippo Maria Panfili, Maria Lisa Dentici, Paola Sabrina Buonuomo, Ippolita Rana, Giovanna Stefania Colafati, Maria Cristina Digilio, Antonio Novelli, Andrea Bartuli

Clin Genet. 2022 Aug; 102(2): 142–148. Published online 2022 May 21. doi: 10.1111/cge.14150

PMCID:: PMC9545400

Abstract Article PDF–2.8M

Select item 949843418.

TBX3 and EFNA4 Variant in a Family with Ulnar-Mammary Syndrome and Sagittal Craniosynostosis

Moon Ley Tung, Bharatendu Chandra, Jaclyn Kotlarek, Marcelo Melo, Elizabeth Phillippi, Cristina M. Justice, Anthony Musolf, Simeon A. Boyadijev, Paul A. Romitti, Benjamin Darbro, Hatem El-Shanti

Genes (Basel) 2022 Sep; 13(9): 1649. Published online 2022 Sep 14. doi: 10.3390/genes13091649