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Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations.
Exome sequencing and the genetics of intellectual disability.
Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13.
Phenotypic spectrum associated with CASK loss-of-function mutations.
The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.
Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals.