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Paper Details

Identification of an HMGB3 frameshift mutation in a family with an X-linked colobomatous microphthalmia syndrome using whole-genome and X-exome sequencing.
JAMA Ophthalmol
17
2014
Author NameAffiliation
Alan F ScottMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine
David W MohrMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine
Laura M KaschMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine
Roxann G IngersollMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine
Kimberly F DohenyMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine
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Release 1.2