Two novel truncating variants of the ASPM gene identified in a nonconsanguineous Chinese family associated with primary microcephaly

Xu, SQ; Zhang, WQ; Zhou, R; Huang, H; Chen, W; Xiang, WH; Liu, LM; Song, JP

Song, JP (通讯作者),Maternal & Child Hlth Hosp Hubei Prov, Ctr Prenatal Diag, Genet Lab, 745 Wuluo Rd, Wuhan 430070, Hubei, Peoples R China.

CLINICAL DYSMORPHOLOGY, 2022; 31 (1): 1

Abstract

Primary autosomal recessive microcephaly 5 (MCPH5) is a rare neurodevelopmental disorder with a relatively high incidence in regions where consanguine......

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