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Article

Townes-Brocks syndrome: genotype-phenotype correlations of SALL1 variants in our series and the literature.

European journal of human genetics : EJHG - 1 Nov 2025

Leduc Fiona, Brunelle Perrine, Escande Fabienne, Ramdane Nassima, Bellengier Laurence, Giacomello Léa, Lefevre Christine, Mezel Aurélie, Samaille Charlotte, Sfeir Rony, Toulemonde Philippine, Manouvrier-Hanu Sylvie, Vincent-Delorme Catherine, Petit Florence, Vanlerberghe Clémence

Abstract excerpt

Townes-Brocks syndrome (TBS, MIM#107480) is an autosomal dominant disorder linked to SALL1 alterations and characterized by a clinical triad (anorectal, thumb, and external-ear malformations), along with variable features. Renal failure and deafness can occur at any age, making follow-up essential. Some genotype-phenotype correlations have been suggested but data are limited. We collected clinical and molecular...

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Source

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Identifiers

PMID: 40348827
DOI: 10.1038/s41431-025-01855-4
PMCID: PMC12583617

Genes

SALL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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