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Article

Ulnar Mammary syndrome and TBX3: expanding the phenotype.

American journal of medical genetics. Part A - 1 Dec 2009

Linden Helen, Williams Rosy, King Janet, Blair Edward, Kini Usha

Abstract excerpt

We present a patient with features of Ulnar Mammary syndrome (UMS) consisting of bilateral ulnar defects, inverted nipples, short stature with associated growth hormone deficiency, and cryptorchidism. Our patient also had a hypoplastic anterior pituitary and an ectopic posterior pituitary gland, ventricular septal defect (VSD), and cardiac conduction defects consistent with Wolff-Parkinson-White (WPW) syndrome....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19938096
DOI: 10.1002/ajmg.a.33096

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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Ulnar Mammary syndrome and TBX3: expanding the phenotype.PMID 19938096Read ↗

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Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene.Semantic proximity Read ↗

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