Language and Cognitive Impairment Associated with a Novel p.Cys63Arg Change in the MED13L Transcriptional Regulator.
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ABSTRACT:
SUBMITTER: Jimenez-Romero S
PROVIDER: S-EPMC5836249 | biostudies-literature | 2018 Feb
REPOSITORIES: biostudies-literature
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Language and Cognitive Impairment Associated with a Novel p.Cys63Arg Change in the MED13L Transcriptional Regulator.
Jiménez-Romero Salud S Carrasco-Salas Pilar P Benítez-Burraco Antonio A
Molecular syndromology 20180111 2
Mutations in the <i>MED13L</i> gene, which encodes a subunit of a transcriptional regulatory complex, result in a complex phenotype entailing physical and cognitive anomalies. Deep language impairment has been reported in affected individuals, mostly in patients with copy number variations. We report on a child with a nonsynonymous p.Cys63Arg change in <i>MED13L</i> (chr12:116675396A>G, GRCh37) who exhibits profound language impairment in the expressive domain, cognitive delay, behavioral distur ...[more]
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