A novel PUS7 mutation causes intellectual disability with autistic and aggressive behaviors
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DOI: 10.1212/nxg.0000000000000356
Abstract: Recently, homozygous PUS7 mutations causing premature stop and truncation of the gene product were identified in 3 independent consanguineous families presenting with intellectual disability (ID), speech delay, short stature, microcephaly, and aggressive behavior.1 PUS7 encodes… read more here.
Keywords: novel pus7; intellectual disability; disability; mutation causes ... See more keywords