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heart in Camelus dromedariusTriplophysa rosaAll 2 Gene records
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
Pseudoxanthoma Elasticum.
Terry SF, Uitto J. 2001 Jun 5 [Updated 2020 Jun 4].
Familial Hypercholesterolemia.
Ison HE, Clarke SL, Knowles JW. 2014 Jan 2 [Updated 2022 Jul 7].
STAT3 Hyper IgE Syndrome.
Hsu AP, Davis J, Puck JM, et al. 2010 Feb 23 [Updated 2020 Mar 26].
Primary Familial and Congenital Polycythemia.
Bento C, McMullin MF, Percy M, et al. 2016 Nov 10.
Sitosterolemia.
Myrie SB, Steiner RD, Mymin D. 2013 Apr 4 [Updated 2020 Jul 16].
Hutchinson-Gilford Progeria Syndrome.
Gordon LB, Brown WT, Collins FS. 2003 Dec 12 [Updated 2023 Oct 19].
Isolated Methylmalonic Acidemia.
Manoli I, Sloan JL, Venditti CP. 2005 Aug 16 [Updated 2022 Sep 8].
Fabry Disease.
Mehta A, Hughes DA. 2002 Aug 5 [Updated 2024 Apr 11].
CADASIL.
Hack RJ, Rutten J, Lesnik Oberstein SAJ. 2000 Mar 15 [Updated 2019 Mar 14].
Osteopathia Striata with Cranial Sclerosis.
Gear R, Savarirayan R. 2021 Apr 15 [Updated 2023 Mar 30].
Disorders of Intracellular Cobalamin Metabolism.
Sloan JL, Carrillo N, Adams D, et al. 2008 Feb 25 [Updated 2021 Dec 16].
Generalized Arterial Calcification of Infancy.
Ziegler SG, Gahl WA, Ferreira CR. 2014 Nov 13 [Updated 2020 Dec 30].
Microcephalic Osteodysplastic Primordial Dwarfism Type II.
Duker A, Jackson A, Bober MB. 2021 Dec 30 [Updated 2023 Mar 30].
Prothrombin Thrombophilia.
Kujovich JL. 2006 Jul 25 [Updated 2021 Feb 4].
Hereditary Hemorrhagic Telangiectasia.
McDonald J, Stevenson DA. 2000 Jun 26 [Updated 2021 Nov 24].
Werner Syndrome.
Oshima J, Martin GM, Hisama FM. 2002 Dec 2 [Updated 2021 May 13].
Complete Plasminogen Activator Inhibitor 1 Deficiency.
Heiman M, Gupta S, Lewandowska M, et al. 2017 Aug 3 [Updated 2023 Feb 23].
Hereditary Coproporphyria.
Wang B, Bissell DM. 2012 Dec 13 [Updated 2022 May 19].
Cystinosis.
Nesterova G, Gahl WA. 2001 Mar 22 [Updated 2017 Dec 7].
Vascular Ehlers-Danlos Syndrome.
Byers PH. 1999 Sep 2 [Updated 2019 Feb 21].
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