GeneReviews® [Internet].
Adam MP, Ardinger HH, Pagon RA, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2018.
GeneReviews by Title GeneReviews Advanced Search Help
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.
Pepin MG, Murray ML, Byers PH. 1999 Sep 2 [Updated 2015 Nov 19].
Hypermobile Ehlers-Danlos Syndrome.
Levy HP. 2004 Oct 22 [Updated 2018 Jun 21].
Arterial Tortuosity Syndrome.
Callewaert B, De Paepe A, Coucke P. 2014 Nov 13.
Loeys-Dietz Syndrome.
Loeys BL, Dietz HC. 2008 Feb 28 [Updated 2018 Mar 1].
FLNA-Related Periventricular Nodular Heterotopia.
Chen MH, Walsh CA. 2002 Oct 8 [Updated 2015 Sep 17].
ATP6V0A2-Related Cutis Laxa.
Van Maldergem L, Dobyns W, Kornak U. 2009 Mar 19 [Updated 2015 Feb 12].
Heritable Thoracic Aortic Disease Overview.
Milewicz DM, Regalado E. 2003 Feb 13 [Updated 2017 Dec 14].
COL1A1/2-Related Osteogenesis Imperfecta.
Steiner RD, Adsit J, Basel D. 2005 Jan 28 [Updated 2013 Feb 14].
Caffey Disease.
Guerin A, Dupuis L, Mendoza-Londono R. 2012 Aug 2 [Updated 2012 Nov 29].
Simpson-Golabi-Behmel Syndrome Type 1.
Sajorda BJ, Gonzalez-Gandolfi CX, Hathaway ER, et al. 2006 Dec 19 [Updated 2018 Nov 29].
Sotos Syndrome.
Tatton-Brown K, Cole TRP, Rahman N. 2004 Dec 17 [Updated 2015 Nov 19].
Kabuki Syndrome.
Adam MP, Hudgins L, Hannibal M. 2011 Sep 1 [Updated 2013 May 16].
DICER1-Related Disorders.
Doros L, Schultz KA, Stewart DR, et al. 2014 Apr 24.
Marfan Syndrome.
Dietz H. 2001 Apr 18 [Updated 2017 Oct 12].
Otopalatodigital Spectrum Disorders.
Robertson S. 2005 Nov 30 [Updated 2013 May 2].
Birt-Hogg-Dubé Syndrome.
Toro JR. 2006 Feb 27 [Updated 2014 Aug 7].
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia.
Nimkarn S, Gangishetti PK, Yau M, et al. 2002 Feb 26 [Updated 2016 Feb 4].
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