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Article

Novel compound heterozygous variants in the STIL gene identified in a Chinese family with presentation of foetal microcephaly.

European journal of medical genetics - 1 Dec 2020

Cheng Chen, Yang Ying, Zhu Xia, Yu Xudong, Zhang Tongda, Yang Fan, Chen Fang, Chen Xinlin, Zhao Sheng, Guo Jian

Abstract excerpt

Primary microcephaly 7 (MCPH7) is an autosomal recessive human neurodevelopmental disorder characterized by microcephaly, sloping forehead, and prominent midface. The STIL gene encodes a protein that regulates the mitotic spindle checkpoint. STIL is the pathogenic gene of MCPH7. Although more than 25 genes have been reported to cause MCPH, many patients lack a molecular diagnosis. The clinical manifestations and...

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PMID: 33132204
DOI: 10.1016/j.ejmg.2020.104091

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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