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Article

Wide phenotypic variations within a family with SALL1 mutations: Isolated external ear abnormalities to Goldenhar syndrome.

American journal of medical genetics. Part A - 15 May 2007

Kosaki Rika, Fujimaru Rika, Samejima Hazuki, Yamada Hiroshi, Izumi Kosuke, Iijima Kazumoto, Kosaki Kenjiro

Abstract excerpt

We report on wide phenotypic variations within a family with SALL1 mutations; the elder sister presented with a Townes-Brocks syndrome phenotype including external ear anomalies, preaxial polydactyly, and anteriorly placed anus, whereas the younger sister presented with a phenotype resembling Goldenhar syndrome, including atretic ear canals, mandibular hypoplasia, and right preaxial polydactyly as well as an...

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Source

Identifiers

PMID: 17431915
DOI: 10.1002/ajmg.a.31700

Genes

SALL1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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