Two novel truncating variants of the ASPM gene identified in a nonconsanguineous Chinese family associated with primary microcephaly
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DOI: 10.1097/mcd.0000000000000395
Abstract: Primary autosomal recessive microcephaly 5 (MCPH5) is a rare neurodevelopmental disorder with a relatively high incidence in regions where consanguineous marriage is widely practiced; So far, only a few MCPH5 cases have been reported from… read more here.
Keywords: two novel; novel truncating; truncating variants; aspm gene ... See more keywords