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Article

Endocrine abnormalities in Townes-Brocks syndrome.

American journal of medical genetics. Part A - 1 Sept 2013

Lawrence Cara, Hong-McAtee Irene, Hall Bryan, Hartsfield James, Rutherford Andrew, Bonilla Tracy, Bay Carolyn

Abstract excerpt

Townes-Brocks syndrome is a recognizable variable pattern of malformation caused by mutations to the SALL1 gene located on chromosome 16q12.1. Only three known cases of Townes-Brocks syndrome with proven SALL1 gene mutation and concurrent endocrine abnormalities have been previously documented to...

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Source

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Identifiers

PMID: 23894113
DOI: 10.1002/ajmg.a.36104
PMCID: PMC5094807

Genes

SALL1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23894113-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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