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GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
GeneReviews by Title GeneReviews Advanced Search Help
Pancreatitis Overview.
Shelton C, LaRusch J, Whitcomb DC. 2014 Mar 13 [Updated 2020 Jul 2].
Sickle Cell Disease.
Bender MA, Carlberg K. 2003 Sep 15 [Updated 2023 Dec 28].
TNF Receptor-Associated Periodic Fever Syndrome.
Deuitch N, Cudrici C, Ombrello A, et al. 2022 Nov 10.
X-Linked Hyper IgM Syndrome.
Dunn CP, de la Morena MT. 2007 May 31 [Updated 2020 Feb 20].
Isolated Methylmalonic Acidemia.
Manoli I, Sloan JL, Venditti CP. 2005 Aug 16 [Updated 2022 Sep 8].
Cherubism.
Kannu P, Baskin B, Bowdin S. 2007 Feb 26 [Updated 2018 Nov 21].
Angelman Syndrome.
Dagli AI, Mathews J, Williams CA. 1998 Sep 15 [Updated 2021 Apr 22].
VPS35-Related Parkinson Disease.
Dulski J, Ross OA, Wszolek ZK. 2017 Aug 10 [Updated 2023 Mar 23].
RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies.
Deuitch N, Broadbridge E, Cunningham L, et al. 2021 Mar 4 [Updated 2024 Jan 11].
FOLR1-Related Cerebral Folate Transport Deficiency.
Goldman ID. 2024 Jan 11.
LMNA-Related Dilated Cardiomyopathy.
Hershberger RE, Jordan E. 2008 Jun 12 [Updated 2022 Mar 17].
APC-Associated Polyposis Conditions.
Yen T, Stanich PP, Axell L, et al. 1998 Dec 18 [Updated 2022 May 12].
McKusick-Kaufman Syndrome.
Slavotinek AM. 2002 Sep 10 [Updated 2020 Dec 3].
GJB1 Disorders: Charcot-Marie-Tooth Neuropathy (CMT1X) and Central Nervous System Phenotypes.
Abrams CK. 1998 Jun 18 [Updated 2024 Apr 25].
WFS1 Spectrum Disorder.
Barrett T, Tranebjærg L, Gupta R, et al. 2009 Feb 24 [Updated 2022 Dec 1].
Prolidase Deficiency.
Rossignol F, Wang H, Ferreira C. 2015 Jun 25 [Updated 2022 Jul 7].
Spinocerebellar Ataxia Type 3.
Paulson H, Shakkottai V. 1998 Oct 10 [Updated 2020 Jun 4].
Lynch Syndrome.
Idos G, Valle L. 2004 Feb 5 [Updated 2021 Feb 4].
GDAP1-Related Hereditary Motor and Sensory Neuropathy.
Bird TD. 2004 May 11 [Updated 2017 Mar 30].
Mowat-Wilson Syndrome.
Adam MP, Conta J, Bean LJH. 2007 Mar 28 [Updated 2019 Jul 25].
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