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Article

TBX6 as a cause of a combined skeletal-kidney dysplasia syndrome.

American journal of medical genetics. Part A - 1 Dec 2022

Li Guozhuang, Strong Alanna, Wang Haojun, Kim Ji-Sun, Watson Deborah, Zhao Sen, Vaccaro Courtney, Hartung Erum, Hakonarson Hakon, Zhang Terry Jianguo, Giampietro Philip F, Wu Nan

Abstract excerpt

TBX6 encodes transcription-factor box 6, a transcription factor critical to paraxial mesoderm segmentation and somitogenesis during embryonic development. TBX6 haploinsufficiency is believed to drive the skeletal and kidney phenotypes associated with the 16p11.2 deletion syndrome. Heterozygous and biallelic variants in TBX6 are associated with vertebral and rib malformations (TBX6-associated congenital scoliosis)...

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Identifiers

PMID: 36161696
DOI: 10.1002/ajmg.a.62972
PMCID: PMC10473889

Provenance

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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TBX6 as a cause of a combined skeletal-kidney dysplasia syndrome.PMID 36161696Read ↗

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