A novel NFIA gene nonsense mutation in a Chinese patient with macrocephaly, corpus callosum hypoplasia, developmental delay, and dysmorphic features
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DOI: 10.1002/mgg3.1492
Abstract: NFIA gene (OMIM*600727) has been shown to be associated with a syndrome of central nervous system malformations (corpus callosum and ventriculomegaly) with or without urinary tract defects(BRMUTD) (OMIM#613735) with a low incidence. read more here.
Keywords: gene nonsense; corpus callosum; nfia gene; nonsense mutation ... See more keywords