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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
Brugada Syndrome.
Brugada R, Campuzano O, Sarquella-Brugada G, et al. 2005 Mar 31 [Updated 2022 Aug 25].
C3 Glomerulopathy.
Martín B, Smith RJH. 2007 Jul 20 [Updated 2018 Apr 5].
X-Linked Hypophosphatemia.
Laurent MR, Harvengt P, Mortier GR, et al. 2012 Feb 9 [Updated 2023 Dec 14].
Dent Disease.
Lieske JC, Milliner DS, Beara-Lasic L, et al. 2012 Aug 9 [Updated 2017 Dec 14].
Genetic Prion Disease.
Zerr I, Schmitz M. 2003 Mar 27 [Updated 2021 Jan 7].
Sickle Cell Disease.
Bender MA, Carlberg K. 2003 Sep 15 [Updated 2023 Dec 28].
Classic Galactosemia and Clinical Variant Galactosemia.
Berry GT. 2000 Feb 4 [Updated 2021 Mar 11].
Myotonic Dystrophy Type 1.
Bird TD. 1999 Sep 17 [Updated 2024 Mar 21].
Myotonic Dystrophy Type 2.
Schoser B. 2006 Sep 21 [Updated 2020 Mar 19].
Diffuse Gastric and Lobular Breast Cancer Syndrome.
Barbosa-Matos R, Córdova L, Schrader K, et al. 2002 Nov 4 [Updated 2024 Oct 10].
Hypophosphatasia.
Nunes ME. 2007 Nov 20 [Updated 2023 Mar 30].
Dystrophinopathies.
Darras BT, Urion DK, Ghosh PS. 2000 Sep 5 [Updated 2022 Jan 20].
Heritable Thoracic Aortic Disease Overview.
Milewicz DM, Cecchi AC. 2003 Feb 13 [Updated 2023 May 4].
Monosomy 7 Predisposition Syndromes Overview.
Olson TS, Dickerson KE, Nakano TA, et al. 2021 Jun 10.
KCNQ2-Related Disorders.
Miceli F, Soldovieri MV, Weckhuysen S, et al. 2010 Apr 27 [Updated 2022 May 19].
Mucopolysaccharidosis Type IVA.
Regier DS, Oetgen M, Tanpaiboon P. 2013 Jul 11 [Updated 2021 Jun 17].
7q11.23 Duplication Syndrome.
Mervis CB, Morris CA, Klein-Tasman BP, et al. 2015 Nov 25 [Updated 2021 Mar 25].
Trichorhinophalangeal Syndrome.
Tüysüz B, Güneş N, Alkaya DU. 2017 Apr 20 [Updated 2024 Mar 21].
SAMD9L Ataxia-Pancytopenia Syndrome.
Raskind WH, Chen DH, Bird T. 2017 Jun 1 [Updated 2021 Feb 4].
DYT-GNAL.
Deutschländer AB, Wszolek ZK. 2019 Jan 3.
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