Exome sequencing identifies a homozygousC5orf42variant in a Turkish kindred with oral-facial-digital syndrome type VI-Reference-Cited by-同舟云学术

Exome sequencing identifies a homozygousC5orf42variant in a Turkish kindred with oral-facial-digital syndrome type VI

Published:2015-04-06 Issue:9 Volume:167 Page:2132-2137
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Bayram Yavuz¹,Aydin Hatip²,Gambin Tomasz¹,Akdemir Zeynep Coban¹,Atik Mehmed M.¹,Karaca Ender¹,Karaman Ali²,Pehlivan Davut¹,Jhangiani Shalini N.³,Gibbs Richard A.³,Lupski James R.¹⁴⁵

Affiliation:

1. Department of Molecular and Human Genetics; Baylor College of Medicine; Houston Texas

2. Center of Genetics Diagnosis; Zeynep Kamil Women's and Children's Diseases Training and Research Hospital; Istanbul Turkey

3. Human Genome Sequencing Center; Baylor College of Medicine; Houston Texas

4. Department of Pediatrics; Baylor College of Medicine; Houston Texas

5. Texas Children's Hospital; Houston Texas

Funder

US National Human Genome Research Institute (NHGRI)/National Heart Lung and Blood Institute (NHLBI)

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37092/fullpdf

Reference19 articles.

1. Whole-genome sequencing for optimized patient management;Bainbridge;Sci Transl Med,2011

2. OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin;Coene;Am J Hum Genet,2009

3. Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome;Darmency-Stamboul;Eur J Med Genet,2013

4. The ciliopathies: A transitional model into systems biology of human genetic disease;Davis;Curr Opin Genet Dev,2012

5. Neuropathologic findings in a case of OFDS type VI (Varadi syndrome);Doss;Am J Med Genet,1998

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