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Article

Molecular diagnosis, clinical evaluation and phenotypic spectrum of Townes-Brocks syndrome: insights from a large Chinese hearing loss cohort.

Journal of medical genetics - 19 Apr 2024

Yan Xiaohong, Wang Jing, Yang Wen, Li Linke, Shen Tian, Geng Jia, Zhang Qian, Zhong Mingjun, Xiong Wenyu, Bu Fengxiao, Lu Yu, Zhao Yu, Cheng Jing, Yuan Huijun

Abstract excerpt

BACKGROUND: Townes-Brocks syndrome (TBS) is a rare genetic disorder characterised by multiple malformations. Due to its phenotypic heterogeneity and rarity, diagnosis and recognition of TBS can be challenging and there has been a lack of investigation of patients with atypical TBS in large cohorts and delineation of their phenotypic characteristics. METHODS: We screened SALL1 and DACT1 variants using...

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Share to Abnormalities, Multiple
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 38296632
DOI: 10.1136/jmg-2023-109579
PMCID: PMC11041606

Genes

SALL1
DACT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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