Identification of anHMGB3Frameshift Mutation in a Family With an X-linked Colobomatous Microphthalmia Syndrome Using Whole-Genome and X-Exome Sequencing-Reference-Cited by-同舟云学术

Identification of anHMGB3Frameshift Mutation in a Family With an X-linked Colobomatous Microphthalmia Syndrome Using Whole-Genome and X-Exome Sequencing

Published:2014-10-01 Issue:10 Volume:132 Page:1215
ISSN:2168-6165
Container-title:JAMA Ophthalmology
language:en
Short-container-title:JAMA Ophthalmol

Author:

Scott Alan F.¹,Mohr David W.¹,Kasch Laura M.¹,Barton Jill A.¹,Pittiglio Raquel¹,Ingersoll Roxann¹,Craig Brian¹,Marosy Beth A.¹,Doheny Kimberly F.¹,Bromley William C.²,Roderick Thomas H.²,Chassaing Nicolas³,Calvas Patrick³,Prabhu Shreya S.⁴,Jabs Ethylin Wang⁵

Affiliation:

1. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland

2. The Jackson Laboratory, Center for Human Genetics, Bar Harbor, Maine

3. CHU Toulouse, Service de Génétique Médicale, Hôpital Purpan, Université Paul-Sabatier Toulouse III, Toulouse, France

4. Icahn School of Medicine at Mount Sinai, New York, New York

5. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland4Icahn School of Medicine at Mount Sinai, New York, New York

Publisher

American Medical Association (AMA)

Subject

Ophthalmology

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