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Items: 1 to 20 of 156

1.

EZH2-Related Overgrowth.

Tatton-Brown K, Rahman N.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2013 Jul 18 [updated 2015 Aug 6].

2.

Costello Syndrome.

Gripp KW, Lin AE.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2006 Aug 29 [updated 2012 Jan 12].

3.

Loeys-Dietz Syndrome.

Loeys BL, Dietz HC.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2008 Feb 28 [updated 2018 Mar 1].

4.

Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.

Tatton-Brown K, Murray A, Hanks S, Douglas J, Armstrong R, Banka S, Bird LM, Clericuzio CL, Cormier-Daire V, Cushing T, Flinter F, Jacquemont ML, Joss S, Kinning E, Lynch SA, Magee A, McConnell V, Medeira A, Ozono K, Patton M, Rankin J, Shears D, Simon M, Splitt M, Strenger V, Stuurman K, Taylor C, Titheradge H, Van Maldergem L, Temple IK, Cole T, Seal S; Childhood Overgrowth Consortium, Rahman N.

Am J Med Genet A. 2013 Dec;161A(12):2972-80. doi: 10.1002/ajmg.a.36229. Epub 2013 Nov 8.

5.

PIK3CA-Related Segmental Overgrowth.

Mirzaa G, Conway R, Graham JM Jr, Dobyns WB.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2013 Aug 15.

6.

ALK-Related Neuroblastic Tumor Susceptibility.

Greengard EG, Park JR.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2010 Jan 5 [updated 2015 Apr 9].

7.

Ornithine Transcarbamylase Deficiency.

Lichter-Konecki U, Caldovic L, Morizono H, Simpson K.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2013 Aug 29 [updated 2016 Apr 14].

8.

Congenital Muscular Dystrophy Overview.

Sparks SE, Quijano-Roy S, Harper A, Rutkowski A, Gordon E, Hoffman EP, Pegoraro E.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2001 Jan 22 [updated 2012 Aug 23].

9.

MPPH Syndrome.

Mirzaa G.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2016 Nov 17.

10.

Sotos Syndrome.

Tatton-Brown K, Cole TRP, Rahman N.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2004 Dec 17 [updated 2015 Nov 19].

11.

Beta-Propeller Protein-Associated Neurodegeneration.

Gregory A, Kurian MA, Haack T, Hayflick SJ, Hogarth P.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2017 Feb 16.

12.

CDC73-Related Disorders.

Jackson MA, Rich TA, Hu MI, Perrier ND, Waguespack SG.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2008 Dec 31 [updated 2015 Jan 15].

13.

Diamond-Blackfan Anemia.

Clinton C, Gazda HT.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2009 Jun 25 [updated 2016 Apr 7].

14.

Coffin-Lowry Syndrome.

Rogers RC, Abidi FE.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2002 Jul 16 [updated 2018 Feb 1].

15.

Muenke Syndrome.

Kruszka P, Addissie YA, Agochukwu NB, Doherty ES, Muenke M.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2006 May 10 [updated 2016 Nov 10].

16.

CASK-Related Disorders.

Moog U, Uyanik G, Kutsche K.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2013 Nov 26.

17.

IMAGe Syndrome.

Bennett J, Schrier Vergano SA, Deardorff MA.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2014 Mar 13 [updated 2016 Sep 8].

18.

MED12-Related Disorders.

Lyons MJ.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2008 Jun 23 [updated 2016 Aug 11].

19.

DCX-Related Disorders.

Hehr U, Uyanik G, Aigner L, Couillard-Despres S, Winkler J.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2007 Oct 19 [updated 2011 Mar 24].

20.

DICER1-Related Disorders.

Doros L, Schultz KA, Stewart DR, Bauer AJ, Williams G, Rossi CT, Carr A, Yang J, Dehner LP, Messinger Y, Hill DA.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2014 Apr 24.

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