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Article

Kidney failure in Townes-Brocks syndrome: an under recognized phenomenon?

American journal of medical genetics. Part A - 1 Nov 2007

Reardon William, Casserly Liam F, Birkenhäger Ralf, Kohlhase Jürgen

Abstract excerpt

Though uncommon, kidney malformations are described in several cases of Townes-Brocks syndrome. By contrast, kidney failure has been reported as the presenting feature of Townes-Brocks syndrome on only one occasion. While the SALL1 gene, mutations of which result in the Townes-Brocks phenotype, is expressed in the developing kidney, the absence of other corroborative reports of kidney failure presenting in...

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Source

Identifiers

PMID: 17910067
DOI: 10.1002/ajmg.a.31699

Genes

SALL1

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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