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Items: 1 to 20 of 102

1.

Atelosteogenesis Type 2.

Bonafé L, Mittaz-Crettol L, Ballhausen D, Superti-Furga A.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2002 Aug 30 [updated 2014 Jan 23].

2.

Achondrogenesis Type 1B.

Bonafé L, Mittaz-Crettol L, Ballhausen D, Superti-Furga A.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2002 Aug 30 [updated 2013 Nov 14].

3.

Diastrophic Dysplasia.

Bonafé L, Mittaz-Crettol L, Ballhausen D, Superti-Furga A.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2004 Nov 15 [updated 2013 Jul 18].

4.

FLNB-Related Disorders.

Robertson S.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2008 Oct 09 [updated 2013 Oct 17].

5.

Roberts Syndrome.

Gordillo M, Vega H, Jabs EW.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2006 Apr 18 [updated 2013 Nov 14].

6.

Alpha-Thalassemia.

Origa R, Moi P, Galanello R, Cao A.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2005 Nov 1 [updated 2013 Nov 21].

7.

Smith-Lemli-Opitz Syndrome.

Nowaczyk MJM.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
1998 Nov 13 [updated 2013 Jun 20].

8.

Multiple Epiphyseal Dysplasia, Recessive.

Bonafé L, Mittaz-Crettol L, Ballhausen D, Superti-Furga A.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2002 Aug 29 [updated 2014 Jan 23].

9.

SOST-Related Sclerosing Bone Dysplasias .

Beighton PH, Hamersma H, Brunkow ME.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2002 Jun 04 [updated 2013 Jan 10].

10.

Atypical Hemolytic-Uremic Syndrome.

Noris M, Bresin E, Mele C, Remuzzi G.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2007 Nov 16 [updated 2013 Aug 08].

11.

Phosphorylase Kinase Deficiency.

Goldstein J, Austin S, Kishnani P, Bali D.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2011 May 31.

12.

Glycogen Storage Disease Type I.

Bali DS, Chen YT, Goldstein JL.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2006 Apr 19 [updated 2013 Sep 19].

13.

WFS1-Related Disorders.

Tranebjærg L, Barrett T, Rendtorff ND.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2009 Feb 24 [updated 2013 Dec 19].

14.

Atelosteogenesis type 2.

Newbury-Ecob R.

J Med Genet. 1998 Jan;35(1):49-53. Review.

15.

Rhizomelic Chondrodysplasia Punctata Type 1.

Braverman NE, Moser AB, Steinberg SJ.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2001 Nov 16 [updated 2012 Sep 13].

16.

Gaucher Disease.

Pastores GM, Hughes DA.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2000 Jul 27 [updated 2015 Feb 26].

17.

ROR2-Related Robinow Syndrome.

Bacino C.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2005 Jul 28 [updated 2011 Aug 25].

18.

Amish Lethal Microcephaly.

Lindhurst MJ, Biesecker LG.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2003 Sep 4 [updated 2011 Jun 16].

19.

Congenital Muscular Dystrophy Overview.

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

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2001 Jan 22 [updated 2012 Aug 23].

20.

Junctional Epidermolysis Bullosa.

Pfendner EG, Lucky AW.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2008 Feb 22 [updated 2014 Jan 02].

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