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Results in this book: 1 to 20 of 30

GeneReviews® [Internet].

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


1.

FKBP14 Kyphoscoliotic Ehlers-Danlos Syndrome.

Giunta C, Rohrbach M, Fauth C, et al. 2019 May 23.

2.

Classic Ehlers-Danlos Syndrome.

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

3.

PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome.

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

4.

Vascular Ehlers-Danlos Syndrome.

Byers PH. 1999 Sep 2 [Updated 2019 Feb 21].

5.

Hypermobile Ehlers-Danlos Syndrome.

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

6.

Loeys-Dietz Syndrome.

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

7.

Arterial Tortuosity Syndrome.

Callewaert B, De Paepe A, Coucke P. 2014 Nov 13 [Updated 2020 Nov 19].

8.

ATP6V0A2-Related Cutis Laxa.

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

9.

FLNA-Related Periventricular Nodular Heterotopia.

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

10.

COL1A1/2 Osteogenesis Imperfecta.

Steiner RD, Basel D. 2005 Jan 28 [Updated 2019 Dec 12].

11.

Caffey Disease.

Guerin A, Dupuis L, Mendoza-Londono R. 2012 Aug 2 [Updated 2019 Jun 13].

12.

Birt-Hogg-Dubé Syndrome.

Sattler EC, Steinlein OK. 2006 Feb 27 [Updated 2020 Jan 30].

13.

DICER1 Tumor Predisposition.

Schultz KAP, Stewart DR, Kamihara J, et al. 2014 Apr 24 [Updated 2020 Apr 30].

14.

Kabuki Syndrome.

Adam MP, Hudgins L, Hannibal M. 2011 Sep 1 [Updated 2019 Oct 21].

17.

Congenital Diaphragmatic Hernia Overview.

Longoni M, Pober BR, High FA. 2006 Feb 1 [Updated 2020 Nov 5].

18.

Heritable Thoracic Aortic Disease Overview.

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

19.

Simpson-Golabi-Behmel Syndrome Type 1.

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

20.

FLNB Disorders.

Robertson S. 2008 Oct 9 [Updated 2020 Feb 13].

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