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Article

Genetic mutations in ribosomal biogenesis gene TCOF1 identified in human neural tube defects.

Molecular genetics & genomic medicine - 1 May 2023

Wang Fang, Cheng Haiqin, Zhang Qin, Guo Jin

Abstract excerpt

BACKGROUND: Rare mutations in multiple genes have been associated with human neural tube defects (NTDs), but their causative roles in NTDs disease are poorly understood. Insufficiency of the ribosomal biogenesis gene treacle ribosome biogenesis factor 1(Tcof1) results in cranial NTDs and craniofacial malformations in mice. Here, we aimed to identify genetic association of TCOF1 with human NTDs. METHODS:...

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PMID: 36808708
DOI: 10.1002/mgg3.2150
PMCID: PMC10178795

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