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Article

The face of Ulnar Mammary syndrome?

European journal of medical genetics - 1 Jan 2000

Joss Shelagh, Kini Usha, Fisher Richard, Mundlos Stefan, Prescott Katrina, Newbury-Ecob Ruth, Tolmie John

Abstract excerpt

Ulnar Mammary syndrome (UMS) is an autosomal disorder caused by haploinsufficiency of the TBX3 gene. There is marked intrafamilial variation in expression of the syndrome. We present one three generation family in which the proband has absence of the right ulna and third, fourth and fifth rays in her right hand. Her mother and maternal grandmother have more subtle anomalies while all have a similar facial...

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Source

Identifiers

PMID: 21199695
DOI: 10.1016/j.ejmg.2010.12.010

Genes

TBX3

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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The face of Ulnar Mammary syndrome?PMID 21199695Read ↗

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