Articles with "siblings gapo" as a keyword



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Two siblings with GAPO syndrome: Ophthalmic presentation and histopathologic findings.

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Published in 2023 at "Ophthalmic genetics"

DOI: 10.1080/13816810.2023.2175225

Abstract: BACKGROUND GAPO syndrome (growth retardation, alopecia, pseudoanodontia, optic atrophy) is a rare, autosomal recessive connective tissue disorder with only 60 reported cases. Ophthalmic manifestations vary and include hypertelorism, optic atrophy, and glaucoma. There have been… read more here.

Keywords: syndrome ophthalmic; presentation histopathologic; siblings gapo; gapo syndrome ... See more keywords