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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
Hyperphosphatemic Familial Tumoral Calcinosis.
Ramnitz MS, Gafni RI, Collins MT. 2018 Feb 1.
Hypophosphatasia.
Nunes ME. 2007 Nov 20 [Updated 2023 Mar 30].
Tyrosinemia Type II.
Bayzaei Z, Dehghani SM, Geramizadeh B. 2024 Oct 24.
Lowe Syndrome.
Lewis RA, Nussbaum RL, Brewer ED. 2001 Jul 24 [Updated 2019 Apr 18].
Generalized Arterial Calcification of Infancy.
Ziegler SG, Gahl WA, Ferreira CR. 2014 Nov 13 [Updated 2020 Dec 30].
Juvenile Hemochromatosis.
Piperno A, Bertola F, Bentivegna A. 2005 Feb 17 [Updated 2020 Jan 9].
Propionic Acidemia.
Galarreta Aima CI, Shchelochkov OA, Jerves Serrano T, et al. 2012 May 17 [Updated 2024 Sep 26].
Prolidase Deficiency.
Rossignol F, Wang H, Ferreira C. 2015 Jun 25 [Updated 2022 Jul 7].
Fibrous Dysplasia / McCune-Albright Syndrome.
Szymczuk V, Florenzano P, de Castro LF, et al. 2015 Feb 26 [Updated 2024 Feb 8].
Schimke Immunoosseous Dysplasia.
Lippner E, Lücke T, Salgado C, et al. 2002 Oct 1 [Updated 2023 Mar 30].
Glutaric Acidemia Type 1.
Larson A, Goodman S. 2019 Sep 19.
Primary Familial Brain Calcification.
Ramos EM, Oliveira J, Sobrido MJ, et al. 2004 Apr 18 [Updated 2017 Aug 24].
Alström Syndrome.
Paisey RB, Steeds R, Barrett T, et al. 2003 Feb 7 [Updated 2019 Jun 13].
Maple Syrup Urine Disease.
Strauss KA, Puffenberger EG, Carson VJ. 2006 Jan 30 [Updated 2020 Apr 23].
Polycystic Kidney Disease, Autosomal Dominant.
Harris PC, Torres VE. 2002 Jan 10 [Updated 2022 Sep 29].
Genetic Prion Disease.
Zerr I, Schmitz M. 2003 Mar 27 [Updated 2021 Jan 7].
X-Linked Hypophosphatemia.
Laurent MR, Harvengt P, Mortier GR, et al. 2012 Feb 9 [Updated 2023 Dec 14].
SATB2-Associated Syndrome.
Zarate YA, Bosanko K, Fish J. 2017 Oct 12 [Updated 2024 Jun 20].
FAM111A-Related Skeletal Dysplasias.
Cheng S, Lo IFM, Luk HM. 2023 Apr 6.
Trichorhinophalangeal Syndrome.
Tüysüz B, Güneş N, Alkaya DU. 2017 Apr 20 [Updated 2024 Mar 21].
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