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A novel splice variant in EMC1 is associated with cerebellar atrophy, visual impairment, psychomotor retardation with epilepsy

Molecular genetics & genomic medicine, Vol. 6, Issue 2, Pages 282-287, 2017

PMID: 29271071

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 atrophy.

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  https://pubmed.ncbi.nlm.nih.gov/29271071/

 

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