Article
Intragenic CAMTA1 deletions are associated with a spectrum of neurobehavioral phenotypes.
Clinical genetics - 1 May 2015
Shinawi M, Coorg R, Shimony J S, Grange D K, Al-Kateb H
Abstract excerpt
Intragenic copy number variations involving the CAMTA1 (calmodulin-binding transcription activator 1) gene have recently been reported in four unrelated families with intellectual disability (ID), ataxia, behavioral- and cerebellar-abnormalities. We report a detailed phenotypic and molecular characterization of three individuals with novel intragenic CAMTA1 deletions from two unrelated families and compare the...
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