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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
Nonsyndromic Retinitis Pigmentosa Overview.
Fahim AT, Daiger SP, Weleber RG. 2000 Aug 4 [Updated 2023 Apr 6].
Cystic Fibrosis.
Savant A, Lyman B, Bojanowski C, et al. 2001 Mar 26 [Updated 2023 Mar 9].
Hyperphosphatemic Familial Tumoral Calcinosis.
Ramnitz MS, Gafni RI, Collins MT. 2018 Feb 1.
Hypophosphatasia.
Nunes ME. 2007 Nov 20 [Updated 2023 Mar 30].
Generalized Arterial Calcification of Infancy.
Ziegler SG, Gahl WA, Ferreira CR. 2014 Nov 13 [Updated 2020 Dec 30].
Glutaric Acidemia Type 1.
Larson A, Goodman S. 2019 Sep 19.
Lowe Syndrome.
Lewis RA, Nussbaum RL, Brewer ED. 2001 Jul 24 [Updated 2019 Apr 18].
Classic Galactosemia and Clinical Variant Galactosemia.
Berry GT. 2000 Feb 4 [Updated 2021 Mar 11].
Juvenile Hemochromatosis.
Piperno A, Bertola F, Bentivegna A. 2005 Feb 17 [Updated 2020 Jan 9].
Fibrous Dysplasia / McCune-Albright Syndrome.
Szymczuk V, Florenzano P, de Castro LF, et al. 2015 Feb 26 [Updated 2024 Feb 8].
SLC39A8-CDG.
Park JH. 2023 Apr 6.
SLC39A14 Deficiency.
Tuschl K, Gregory A, Meyer E, et al. 2017 May 25 [Updated 2022 Dec 8].
Multiple Sulfatase Deficiency.
Schlotawa L, Adang L, De Castro M, et al. 2019 Mar 21.
Dent Disease.
Lieske JC, Milliner DS, Beara-Lasic L, et al. 2012 Aug 9 [Updated 2017 Dec 14].
Prolidase Deficiency.
Rossignol F, Wang H, Ferreira C. 2015 Jun 25 [Updated 2022 Jul 7].
Alström Syndrome.
Paisey RB, Steeds R, Barrett T, et al. 2003 Feb 7 [Updated 2019 Jun 13].
Trichorhinophalangeal Syndrome.
Tüysüz B, Güneş N, Alkaya DU. 2017 Apr 20 [Updated 2024 Mar 21].
Disorders of GNAS Inactivation.
Haldeman-Englert CR, Hurst ACE, Levine MA. 2017 Oct 26.
17q12 Recurrent Deletion Syndrome.
Mitchel MW, Moreno-De-Luca D, Myers SM, et al. 2016 Dec 8 [Updated 2020 Oct 15].
Primary Familial Brain Calcification.
Ramos EM, Oliveira J, Sobrido MJ, et al. 2004 Apr 18 [Updated 2017 Aug 24].
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