Truncating Mutation in theNHSGene: Phenotypic Heterogeneity of Nance-Horan Syndrome in an Asian Indian Family
- 1 January 2005
- journal article
- Published by Association for Research in Vision and Ophthalmology (ARVO) in Investigative Opthalmology & Visual Science
- Vol. 46 (1) , 17-23
- https://doi.org/10.1167/iovs.04-0477
Abstract
Purpose. A four-generation family containing eight affected males who inherited X-linked developmental lens opacity and microcornea was studied. Some members in the family had mild to moderate nonocular clinical features suggestive of Nance-Horan syndrome. The purpose of the study was to map genetically the gene in the large 57-live-member Asian-Indian pedigree.Keywords
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