GAPO syndrome: Four new patients with congenital glaucoma and myelinated retinal nerve fiber layer

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dc.contributor.authorBozkurt, Banu
dc.contributor.authorYildirim, Mahmut Selman
dc.contributor.authorOkka, Mehmet
dc.contributor.authorBitirgen, Gulfidan
dc.date.accessioned2024-02-22T20:49:59Z
dc.date.available2024-02-22T20:49:59Z
dc.date.issued2013
dc.departmentNEÜen_US
dc.description.abstractThis article reports on the ophthalmological features of four Turkish children with GAPO syndrome, a very rare autosomal recessive condition characterized by growth retardation (G), alopecia (A), pseudoanodontia (P) (failure of tooth eruption), and optic atrophy (O). The children were from two unrelated families born to consanguineous parents. They had the characteristic facial appearance of alopecia, rarefaction of eyebrows and eyelashes, frontal bossing, high forehead, midfacial hypoplasia, hypertelorism, and thickened eyelids and lips. Two children had severe end-stage glaucoma in both eyes and unilateral corneal opacity, whereas other two children had myelinated retinal nerve fiber layer; one with bilateral optic atrophy and the other one with persistent pupillary membrane in the left eye. (c) 2013 Wiley Periodicals, Inc.en_US
dc.identifier.doi10.1002/ajmg.a.35734
dc.identifier.endpage834en_US
dc.identifier.issn1552-4825
dc.identifier.issn1552-4833
dc.identifier.issue4en_US
dc.identifier.pmid23494824en_US
dc.identifier.scopus2-s2.0-84875515937en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage829en_US
dc.identifier.urihttps://doi.org/10.1002/ajmg.a.35734
dc.identifier.urihttps://hdl.handle.net/20.500.12452/10515
dc.identifier.volume161Aen_US
dc.identifier.wosWOS:000316631300028en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherWileyen_US
dc.relation.ispartofAmerican Journal Of Medical Genetics Part Aen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectGapo Syndromeen_US
dc.subjectCongenital Glaucomaen_US
dc.subjectMyelinated Retinal Nerve Fiber Layeren_US
dc.subjectPersistent Pupillary Membraneen_US
dc.subjectCorneal Opacityen_US
dc.titleGAPO syndrome: Four new patients with congenital glaucoma and myelinated retinal nerve fiber layeren_US
dc.typeArticleen_US

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