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Article

TBX3- Related Disorder.

American journal of medical genetics. Part A - 1 Feb 2026

Halperin Ziv, Weiss Karin

Abstract excerpt

Heterozygous pathogenic variants in TBX3 cause Ulnar-Mammary syndrome (UMS). The phenotype is classically characterized by upper limb defects, apocrine/mammary gland hypoplasia, hypogonadism, and various midline defects. However, the clinical spectrum is highly variable, and some individuals may present with a mild or atypical presentation without limb or mammary involvement. More recent studies identified a high...

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Identifiers

PMID: 40995837
DOI: 10.1002/ajmg.a.64260

Genes

TBX3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 21 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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