GeneReviews® [Internet].
Adam MP, Ardinger HH, Pagon RA, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2021.
GeneReviews by Title GeneReviews Advanced Search Help
FKBP14 Kyphoscoliotic Ehlers-Danlos Syndrome.
Giunta C, Rohrbach M, Fauth C, et al. 2019 May 23.
Classic Ehlers-Danlos Syndrome.
Malfait F, Wenstrup R, De Paepe A. 2007 May 29 [Updated 2018 Jul 26].
PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome.
Yeowell HN, Steinmann B. 2000 Feb 2 [Updated 2018 Oct 18].
Vascular Ehlers-Danlos Syndrome.
Byers PH. 1999 Sep 2 [Updated 2019 Feb 21].
Hypermobile Ehlers-Danlos Syndrome.
Levy HP. 2004 Oct 22 [Updated 2018 Jun 21].
Loeys-Dietz Syndrome.
Loeys BL, Dietz HC. 2008 Feb 28 [Updated 2018 Mar 1].
Arterial Tortuosity Syndrome.
Callewaert B, De Paepe A, Coucke P. 2014 Nov 13 [Updated 2020 Nov 19].
ATP6V0A2-Related Cutis Laxa.
Van Maldergem L, Dobyns W, Kornak U. 2009 Mar 19 [Updated 2015 Feb 12].
FLNA-Related Periventricular Nodular Heterotopia.
Chen MH, Walsh CA. 2002 Oct 8 [Updated 2015 Sep 17].
COL1A1/2 Osteogenesis Imperfecta.
Steiner RD, Basel D. 2005 Jan 28 [Updated 2019 Dec 12].
Caffey Disease.
Guerin A, Dupuis L, Mendoza-Londono R. 2012 Aug 2 [Updated 2019 Jun 13].
Birt-Hogg-Dubé Syndrome.
Sattler EC, Steinlein OK. 2006 Feb 27 [Updated 2020 Jan 30].
DICER1 Tumor Predisposition.
Schultz KAP, Stewart DR, Kamihara J, et al. 2014 Apr 24 [Updated 2020 Apr 30].
Kabuki Syndrome.
Adam MP, Hudgins L, Hannibal M. 2011 Sep 1 [Updated 2019 Oct 21].
Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Ashkenazi Jewish Population.
Wallace SE, Bean LJH. 2018 Dec 13.
Resources for Genetics Professionals — Genes with Highly Homologous Gene Family Members or a Pseudogene(s).
Wallace SE, Bean LJH. 2018 Mar 8.
Congenital Diaphragmatic Hernia Overview.
Longoni M, Pober BR, High FA. 2006 Feb 1 [Updated 2020 Nov 5].
Heritable Thoracic Aortic Disease Overview.
Milewicz DM, Regalado E. 2003 Feb 13 [Updated 2017 Dec 14].
Simpson-Golabi-Behmel Syndrome Type 1.
Sajorda BJ, Gonzalez-Gandolfi CX, Hathaway ER, et al. 2006 Dec 19 [Updated 2018 Nov 29].
FLNB Disorders.
Robertson S. 2008 Oct 9 [Updated 2020 Feb 13].
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