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Article

EFTUD2 gene deficiency disrupts osteoblast maturation and inhibits chondrocyte differentiation via activation of the p53 signaling pathway.

Human genomics - 5 Dec 2019

Wu Jing, Yang Yi, He You, Li Qiang, Wang Xu, Sun Chengjun, Wang Lishun, An Yu, Luo Feihong

Abstract excerpt

BACKGROUND: Mandibulofacial dysostosis with microcephaly (MFDM) is characteristic of multiple skeletal anomalies comprising craniofacial anomalies/dysplasia, microcephaly, dysplastic ears, choanal atresia, and short stature. Heterozygous loss of function variants of EFTUD2 was previously reported in MFDM; however, the mechanism underlying EFTUD2-associated skeletal dysplasia remains unclear. RESULTS: We...

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Identifiers

PMID: 31806011
DOI: 10.1186/s40246-019-0238-y
PMCID: PMC6894506

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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