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Results in this book: 16

GeneReviews® [Internet].

GeneReviews® [Internet].

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

Seattle (WA): University of Washington, Seattle; 1993-2018.

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1.

ATP6V0A2-Related Cutis Laxa.

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

2.

FBLN5-Related Cutis Laxa.

Van Maldergem L, Loeys B. 2009 Mar 19 [Updated 2014 Mar 13].

3.

EFEMP2-Related Cutis Laxa.

Loeys B, De Paepe A, Urban Z. 2011 May 12 [Updated 2015 Jul 23].

4.

LTBP4-Related Cutis Laxa.

Callewaert BL, Urban Z. 2016 Feb 11.

5.

Arterial Tortuosity Syndrome.

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

6.

Ehlers-Danlos Syndrome, Classic Type.

Malfait F, Wenstrup R, De Paepe A. 2007 May 29 [Updated 2011 Aug 18].

7.

Williams Syndrome.

Morris CA. 1999 Apr 9 [Updated 2017 Mar 23].

8.

Loeys-Dietz Syndrome.

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

9.

ATP7A-Related Copper Transport Disorders.

Kaler SG. 2003 May 9 [Updated 2016 Aug 18].

10.

7q11.23 Duplication Syndrome.

Mervis CB, Morris CA, Klein-Tasman BP, et al. 2015 Nov 25.

11.

RAB18 Deficiency.

Handley M, Sheridan E. 2018 Jan 4.

12.

Pseudoxanthoma Elasticum.

Terry SF, Bercovitch L. 2001 Jun 5 [Updated 2012 Jun 14].

13.

Costello Syndrome.

Gripp KW, Lin AE. 2006 Aug 29 [Updated 2012 Jan 12].

14.

Lenz Microphthalmia Syndrome.

Ng D. 2002 Jun 4 [Updated 2014 Oct 2].

15.

GeneReviews® [Internet].

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

16.

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