A Novel Ribosomopathy Caused by Dysfunction of RPL10 Disrupts Neurodevelopment and Causes X-Linked Microcephaly in Humans

Neurodevelopmental defects in humans represent a clinically heterogeneous group of disorders. Here, we report the genetic and functional dissection of a multigenerational pedigree with an X-linked syndromic disorder hallmarked by microcephaly, growth retardation, and seizures. Using an X-linked inte...

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Detalhes bibliográficos
Main Authors: Brooks, Susan S., Wall, Alissa L., Golzio, Christelle, Reid, David W., Kondyles, Amalia, Willer, Jason R., Botti, Christina, Nicchitta, Christopher V., Katsanis, Nicholas, Davis, Erica E.
Formato: Artigo
Idioma:Inglês
Publicado em: Genetics Society of America 2014
Assuntos:
Investigations
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4196623/
https://ncbi.nlm.nih.gov/pubmed/25316788
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1534/genetics.114.168211
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