Article
A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis.
Journal of medical genetics - 1 Jul 2017
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
Abstract excerpt
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, cerebellar hypoplasia and hydranencephaly (MARCH)); to identify its genetic cause(s) and to provide functional insight into...
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