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Optic Nerve Hypoplasia, Corpus Callosum Agenesis, Cataract, and Lissencephaly in a Neonate with a NovelCOL4A1 Mutation

We report the case of a girl with a novel mutation of the COL4A gene (c.2716+2T>C) presenting microcephaly, parenchymal hemorrhages, lissencephaly, and bilateral cataracts, associated with agenesis of the corpus callosum and hypoplasia of the optic nerve. COL4A1, located on chromosome 13, encodes...

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Bibliografski detalji
Izdano u:Case Rep Ophthalmol
Glavni autori: Grego, Lisa, Pignatto, Silvia, Rassu, Nicolò, Passone, Eva, Cogo, Paola, Lanzetta, Paolo
Format: Artigo
Jezik:Inglês
Izdano: S. Karger AG 2019
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6959118/
https://ncbi.nlm.nih.gov/pubmed/31966034
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000505017
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