Novel mutation in the ASXL3 gene in a Chinese boy with microcephaly and speech impairment: A case report
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DOI: 10.12998/wjcc.v8.i24.6465
Abstract: BACKGROUND Bainbridge-Ropers syndrome (BRPS) is a severe disorder characterized by failure to thrive, facial dysmorphism, and severe developmental delay. BRPS is caused by a heterozygous loss-of-function mutation in the ASXL3 gene. Due to limited knowledge… read more here.
Keywords: asxl3 gene; chinese boy; brps; mutation ... See more keywords