Expanding theSPECC1Lmutation phenotypic spectrum to include Teebi hypertelorism syndrome-Reference-Cited by-同舟云学术

Expanding theSPECC1Lmutation phenotypic spectrum to include Teebi hypertelorism syndrome

Published:2015-06-25 Issue:11 Volume:167 Page:2497-2502
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Bhoj Elizabeth J.¹²,Li Dong²,Harr Margaret H.¹,Tian Lifeng²,Wang Tiancheng²,Zhao Yan²,Qiu Haijun²,Kim Cecilia²,Hoffman Jodi D.³,Hakonarson Hakon²⁴,Zackai Elaine H.¹⁴

Affiliation:

1. Department of Genetics; Children's Hospital of Philadelphia; Philadelphia Pennsylvania

2. Center for Applied Genomics; Children's Hospital of Philadelphia; Philadelphia Pennsylvania

3. Division of Genetics; Department of Pediatrics; Boston Medical Center; Boston Massachusetts

4. Department of Pediatrics; The Perelman School of Medicine; University of Pennsylvania; Philadelphia Pennsylvania

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37217/fullpdf

Reference19 articles.

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2. A framework for variation discovery and genotyping using next-generation DNA sequencing data;DePristo;Nat Genet,2011

3. Functional analysis of SPECC1L in craniofacial development and oblique facial cleft pathogenesis;Gfrerer;Plast Reconstr Surg,2014

4. Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections;Guo;Nat Genet,2007

5. Atrioventricular block and wiry hair in Teebi hypertelorism syndrome;Han;Am J Med Genet A,2006

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