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Article

Townes-Brocks syndrome versus expanded spectrum hemifacial microsomia: review of eight patients and further evidence of a "hot spot" for mutation in the SALL1 gene.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2000

Keegan C E, Mulliken J B, Wu B L, Korf B R

Abstract excerpt

PURPOSE: It can be difficult to differentiate clinically between hemifacial microsomia (HFM) and Townes-Brocks syndrome (TBS). The distinction is important because TBS is inherited as an autosomal dominant trait, whereas HFM is sporadic. METHODS: We performed a retrospective analysis of eight patients with HFM-expanded spectrum and anal anomalies to determine whether this subset has TBS. RESULTS: Two patients had...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11478532
DOI: 10.1097/00125817-200107000-00007

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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