Article

Association of a TGFBI Mutation with Congenital Glaucoma in GAPO Syndrome

2022-04-30

Abstract excerpt

<h4>Purpose: </h4> To investigate the molecular basis of congenital glaucoma in a family with GAPO (growth retardation, alopecia, pseudoanodontia, and progressive optic atrophy) syndrome. <h4>Methods:</h4> We report ocular features of 3 girls with GAPO syndrome born of consanguineous marriage in a multi- generation consanguineous family. The proband (4year old girl) and her younger sibling (1 year old girl) were o...

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Literature Corpus work: dd370324-ca92-5b52-a06b-8fd222962acc
DOI: 10.20944/preprints202204.0310.v1

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