Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions-Reference-Cited by-同舟云学术

Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions

Published:2011-01-10 Issue:1 Volume:80 Page:31-38
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:

Author:

Willemsen MH,Beunders G,Callaghan M,de Leeuw N,Nillesen WM,Yntema HG,van Hagen JM,Nieuwint AWM,Morrison N,Keijzers-Vloet STM,Hoischen A,Brunner HG,Tolmie J,Kleefstra T

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2010.01607.x/fullpdf

Reference38 articles.

1. Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome.;Stewart;Am J Med Genet A,2004

2. The chromosome 9q subtelomere deletion syndrome.;Stewart;Am J Med Genet C Semin Med Genet,2007

3. Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype.;Kleefstra;J Med Genet,2009

4. Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly.;Yatsenko;J Med Genet,2005

5. Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndrome.;Kleefstra;Am J Med Genet A,2006

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