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Article

Two coding single nucleotide polymorphisms in the SALL1 gene in Townes-Brocks syndrome: a case report and review of the literature.

Journal of pediatric surgery - 1 Feb 2008

Liang Ying, Shen Dihua, Cai Wei

Abstract excerpt

Townes-Brocks syndrome (TBS) is an autosomal dominantly inherited malformation syndrome characterized by imperforate anus and limb and ear malformations with sensorineural hearing loss. Mutations in SALL1, a gene mapping to chromosome 16q21.1, are responsible for TBS. Here, we described a 16-month-old male patient with typical TBS clinical features including imperforate anus and preaxial polydactyly. Two coding...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18280297
DOI: 10.1016/j.jpedsurg.2007.09.079

Genes

SALL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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