Article
A novel splice variant in EMC1 is associated with cerebellar atrophy, visual impairment, psychomotor retardation with epilepsy.
Molecular genetics & genomic medicine - 1 Mar 2018
Geetha Thenral S, Lingappa Lokesh, Jain Abhishek Ravindra, Govindan Hridya, Mandloi Nitin, Murugan Sakthivel, Gupta Ravi, Vedam Ramprasad
Abstract excerpt
BACKGROUND: Several genes have been implicated in a highly variable presentation of developmental delay with psychomotor retardation. Mutations in EMC1 gene have recently been reported. Herein, we describe a proband born of a consanguineous marriage, who presented with early infantile onset epilepsy, scaphocephaly, developmental delay, central hypotonia, muscle wasting, and severe cerebellar and brainstem...
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