Article
CDC174, a novel component of the exon junction complex whose mutation underlies a syndrome of hypotonia and psychomotor developmental delay.
Human molecular genetics - 15 Nov 2015
Volodarsky Michael, Lichtig Hava, Leibson Tom, Sadaka Yair, Kadir Rotem, Perez Yonatan, Liani-Leibson Keren, Gradstein Libe, Shaco-Levy Ruthy, Shorer Zamir, Frank Dale, Birk Ohad S
Abstract excerpt
Siblings of non-consanguineous Jewish-Ethiopian ancestry presented with congenital axial hypotonia, weakness of the abducens nerve, psychomotor developmental delay with brain ventriculomegaly, variable thinning of corpus callosum and cardiac septal defects. Homozygosity mapping identified a single disease-associated locus of 3.5 Mb on chromosome 3. Studies of a Bedouin consanguineous kindred affected with a...
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