A 16q12 microdeletion in a boy with severe psychomotor delay, craniofacial dysmorphism, brain and limb malformations, and a heart defect-Reference-Cited by-同舟云学术

A 16q12 microdeletion in a boy with severe psychomotor delay, craniofacial dysmorphism, brain and limb malformations, and a heart defect

Published:2011-12-02 Issue:1 Volume:158A Page:229-235
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Shoukier Moneef,Wickert Julia,Schröder Julia,Bartels Iris,Auber Bernd,Zoll Barbara,Salinas-Riester Gabriela,Weise Dagmar,Brockmann Knut,Zirn Birgit,Burfeind Peter

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.34387/fullpdf

Reference13 articles.

1. Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2;Ballif;Clin Genet,2008

2. Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes;Bardakjian;BMC Med Genet,2009

3. Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations;Boissel;Am J Hum Genet,2009

4. Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome;Borozdin;Hum Mutat,2006

5. Identification of a submicroscopic 3.2 Mb chromosomal 16q12.2-13 deletion in a child with short stature, mild developmental delay, and craniofacial anomalies, by high-density oligonucleotide array-A recognizable syndrome;Chang;Am J Med Genet Part A,2010

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