A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis

BACKGROUND: Hydranencephaly is a congenital anomaly leading to replacement of the cerebral hemispheres with a fluid-filled cyst. The goals of this work are to describe a novel autosomal-recessive syndrome that includes hydranencephaly (multinucleated neurons, anhydramnios, renal dysplasia, cerebella...

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Detalles Bibliográficos
Autores principales: Frosk, Patrick, Arts, Heleen H, Philippe, Julien, Gunn, Carter S, Brown, Emma L, Chodirker, Bernard, Simard, Louise, Majewski, Jacek, Fahiminiya, Somayyeh, Russell, Chad, Liu, Yangfan P, Hegele, Robert, Katsanis, Nicholas, Goerz, Conrad, Del Bigio, Marc R, Davis, Erica E
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2017
Materias:
New Loci
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5502313/
https://www.ncbi.nlm.nih.gov/pubmed/28264986
http://dx.doi.org/10.1136/jmedgenet-2016-104296

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5502313/
https://www.ncbi.nlm.nih.gov/pubmed/28264986
http://dx.doi.org/10.1136/jmedgenet-2016-104296

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