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Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia

Optic nerve hypoplasia (ONH) is a congenital malformation with a reduced number of retinal ganglion cell axons in a thin optic nerve. It is a common cause of visual impairment in children and ONH is associated with neurodevelopmental disorders, pituitary hormone deficiencies, and brain malformations...

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Detalles Bibliográficos
Autores principales:	Dahl, Sara, Pettersson, Maria, Eisfeldt, Jesper, Schröder, Anna Katharina, Wickström, Ronny, Teär Fahnehjelm, Kristina, Anderlid, Britt-Marie, Lindstrand, Anna
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2020
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7010252/ https://www.ncbi.nlm.nih.gov/pubmed/32040484 http://dx.doi.org/10.1371/journal.pone.0228622

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