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Article

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

Clinical dysmorphology - 1 Jan 2022

Xu Shuqin, Zhang Wenqian, Zhou Rui, Huang Hui, Chen Wei, Xiang Wenhao, Liu Limei, Song Jieping

Abstract excerpt

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 China. Here, we report clinical and molecular characteristics of two Chinese MCPH5 patients, a 24-year-old woman proband and her brother, a 19-year-old man, from a...

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Identifiers

PMID: 34693918
DOI: 10.1097/MCD.0000000000000395

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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