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Purpose: To investigate the molecular basis of congenital glaucoma in a family with GAPO (growth retardation, alopecia, pseudoanodontia, and progressive optic atrophy) syndrome.
Methods: We report ocular features of three girls with GAPO syndrome born of consanguineous marriage in a multi‐ generation consanguineous family. The proband (4 year old girl) and her younger sibling (1 year old girl) were...
Purpose: Multilocus disease‐causing genomic variations (MGVs) and multiple genetic diagnoses (MGDs) are increasingly being recognized in individuals and families with Mendelian disorders. This can mainly be attributed to the widespread use of next generation sequencing (NGS) for the evaluation of these disorders. We conducted an NGS study of 40 juvenile onset open angle glaucoma (JOAG) families to...
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