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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
Achromatopsia.
Kohl S, Jägle H, Wissinger B, et al. 2004 Jun 24 [Updated 2018 Sep 20].
Brugada Syndrome.
Brugada R, Campuzano O, Sarquella-Brugada G, et al. 2005 Mar 31 [Updated 2022 Aug 25].
Carney Complex.
Stratakis CA. 2003 Feb 5 [Updated 2023 Sep 21].
Cystic Fibrosis.
Savant A, Lyman B, Bojanowski C, et al. 2001 Mar 26 [Updated 2024 Aug 8].
STAT3 Hyper IgE Syndrome.
Hsu AP, Davis J, Puck JM, et al. 2010 Feb 23 [Updated 2020 Mar 26].
Hypokalemic Periodic Paralysis.
Weber F, Lehmann-Horn F. 2002 Apr 30 [Updated 2018 Jul 26].
CLCN2-Related Leukoencephalopathy.
Min R, Depienne C, Sedel F, et al. 2015 Nov 5 [Updated 2021 May 20].
Familial Dysautonomia.
Bar-Aluma BE. 2003 Jan 21 [Updated 2021 Nov 4].
AP-4-Associated Hereditary Spastic Paraplegia.
Ebrahimi-Fakhari D, Behne R, Davies AK, et al. 2018 Dec 13.
Megalencephalic Leukoencephalopathy with Subcortical Cysts.
Min R, Abbink TEM, van der Knaap MS. 2003 Aug 11 [Updated 2023 Jul 27].
AIP Familial Isolated Pituitary Adenomas.
Korbonits M, Kumar AV. 2012 Jun 21 [Updated 2020 Apr 16].
Junctional Epidermolysis Bullosa.
Pfendner EG, Lucky AW. 2008 Feb 22 [Updated 2018 Dec 20].
Hereditary Fructose Intolerance.
Gaughan S, Ayres L, Baker PR II. 2015 Dec 17 [Updated 2021 Feb 18].
Hereditary Nephrogenic Diabetes Insipidus.
Knoers N, Lemmink H. 2000 Feb 12 [Updated 2020 Feb 27].
GNB1 Encephalopathy.
Revah-Politi A, Sands TT, Colombo S, et al. 2020 Mar 5 [Updated 2021 Apr 15].
Spastic Paraplegia 15.
Ebrahimi-Fakhari D, Alecu JE, Blackstone C. 2021 May 27.
TECPR2-Related Hereditary Sensory and Autonomic Neuropathy with Intellectual Disability.
Heimer G, Neuser S, Ben-Zeev B, et al. 2022 Sep 22.
KCNQ2-Related Disorders.
Miceli F, Soldovieri MV, Weckhuysen S, et al. 2010 Apr 27 [Updated 2022 May 19].
Pseudohypoaldosteronism Type II.
Ellison DH. 2011 Nov 10 [Updated 2017 Feb 16].
Ellis-van Creveld Syndrome.
Da Silva JD, Tkachenko N, Soares AR. 2023 Oct 26.
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