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Results in this book: 1 to 20 of 26

GeneReviews® [Internet].

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


1.

Classic Ehlers-Danlos Syndrome.

Malfait F, Wenstrup R, De Paepe A. 2007 May 29 [Updated 2018 Jul 26].

2.

PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome.

Yeowell HN, Steinmann B. 2000 Feb 2 [Updated 2018 Oct 18].

3.

Vascular Ehlers-Danlos Syndrome.

Pepin MG, Murray ML, Byers PH. 1999 Sep 2 [Updated 2015 Nov 19].

4.

Hypermobile Ehlers-Danlos Syndrome.

Levy HP. 2004 Oct 22 [Updated 2018 Jun 21].

5.

Arterial Tortuosity Syndrome.

Callewaert B, De Paepe A, Coucke P. 2014 Nov 13.

6.

Loeys-Dietz Syndrome.

Loeys BL, Dietz HC. 2008 Feb 28 [Updated 2018 Mar 1].

7.

FLNA-Related Periventricular Nodular Heterotopia.

Chen MH, Walsh CA. 2002 Oct 8 [Updated 2015 Sep 17].

8.

ATP6V0A2-Related Cutis Laxa.

Van Maldergem L, Dobyns W, Kornak U. 2009 Mar 19 [Updated 2015 Feb 12].

9.

Heritable Thoracic Aortic Disease Overview.

Milewicz DM, Regalado E. 2003 Feb 13 [Updated 2017 Dec 14].

10.

COL1A1/2-Related Osteogenesis Imperfecta.

Steiner RD, Adsit J, Basel D. 2005 Jan 28 [Updated 2013 Feb 14].

11.

Caffey Disease.

Guerin A, Dupuis L, Mendoza-Londono R. 2012 Aug 2 [Updated 2012 Nov 29].

12.

Simpson-Golabi-Behmel Syndrome Type 1.

Sajorda BJ, Gonzalez-Gandolfi CX, Hathaway ER, et al. 2006 Dec 19 [Updated 2018 Nov 29].

13.

Sotos Syndrome.

Tatton-Brown K, Cole TRP, Rahman N. 2004 Dec 17 [Updated 2015 Nov 19].

14.

Kabuki Syndrome.

Adam MP, Hudgins L, Hannibal M. 2011 Sep 1 [Updated 2013 May 16].

15.

DICER1-Related Disorders.

Doros L, Schultz KA, Stewart DR, et al. 2014 Apr 24.

16.

Marfan Syndrome.

Dietz H. 2001 Apr 18 [Updated 2017 Oct 12].

17.

Otopalatodigital Spectrum Disorders.

Robertson S. 2005 Nov 30 [Updated 2013 May 2].

18.

Birt-Hogg-Dubé Syndrome.

Toro JR. 2006 Feb 27 [Updated 2014 Aug 7].

19.

21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia.

Nimkarn S, Gangishetti PK, Yau M, et al. 2002 Feb 26 [Updated 2016 Feb 4].

20.

GeneReviews® [Internet].

Adam MP, Ardinger HH, Pagon RA, et al., editors.

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