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Article

A mutation in TBXT causes congenital vertebral malformations in humans and mice.

Journal of genetics and genomics = Yi chuan xue bao - 1 Apr 2024

Chen Shuxia, Lei Yunping, Yang Yajun, Liu Chennan, Kuang Lele, Jin Li, Finnell Richard H, Yang Xueyan, Wang Hongyan

Abstract excerpt

T-box transcription factor T (TBXT; T) is required for mesodermal formation and axial skeletal development. Although it has been extensively studied in various model organisms, human congenital vertebral malformations (CVMs) involving T are not well established. Here, we report a family with 15 CVM patients distributed across 4 generations. All affected individuals carry a heterozygous mutation, T c.596A>G...

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Identifiers

PMID: 37751845
DOI: 10.1016/j.jgg.2023.09.009

Genes

TBXT

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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