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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Detalles Bibliográficos
Autores principales: Grego, Lisa, Pignatto, Silvia, Rassu, Nicolò, Passone, Eva, Cogo, Paola, Lanzetta, Paolo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6959118/
https://www.ncbi.nlm.nih.gov/pubmed/31966034
http://dx.doi.org/10.1159/000505017

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