Exome sequencing identifies a de novo frameshift mutation in the imprinted geneZDBF2in a sporadic patient with Nasopalpebral Lipoma-coloboma syndrome-Reference-Cited by-同舟云学术

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Exome sequencing identifies a de novo frameshift mutation in the imprinted geneZDBF2in a sporadic patient with Nasopalpebral Lipoma-coloboma syndrome

Published:2016-05-03 Issue:7 Volume:170 Page:1934-1937
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Chacón-Camacho Oscar F.¹,Sobreira Nara²,You Jing²,Piña-Aguilar Raul E.³,Villegas-Ruiz Vanessa¹,Zenteno Juan C.¹⁴

Affiliation:

1. Department of Genetics-Research Unit; Institute of Ophthalmology “Conde de Valenciana”; Mexico City Mexico

2. Institute of Genetic Medicine; Johns Hopkins University School of Medicine; Baltimore Maryland

3. Division of Genomic Medicine; National Medical Center “20 de Noviembre”; ISSSTE; Mexico City Mexico

4. Faculty of Medicine; Department of Biochemistry; National Autonomous University of Mexico (UNAM); Mexico City Mexico

Funder

National Human Genome Research Institute

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference15 articles.

1. Nasopalpebral lipoma-coloboma syndrome;Akarsu;Clin Genet,1991

2. Nasopalpebral lipoma coloboma syndrome;Babu;Indian J Ophthalmol,2011

3. Nasopalpebral lipoma-coloboma;Bock-Kunz;Arch Ophthalmol,2000

4. Nasopalpebral lipoma-coloboma syndrome: Clinical, radiological, and histopathological description of a novel sporadic case;Chacon-Camacho;Am J Med Genet A,2013

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

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