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Article

Novel mutation of TBX3 in a Japanese family with ulnar-mammary syndrome: implication for impaired sex development.

American journal of medical genetics - 15 Jul 2002

Sasaki Goro, Ogata Tsutomu, Ishii Tomohiro, Hasegawa Tomonobu, Sato Seiji, Matsuo Nobutake

Abstract excerpt

We report on a Japanese family (two brothers and their mother) with ulnar-mammary syndrome (UMS). Clinical features included hypoplasia or aplasia of upper limbs on the ulnar side in the three affected individuals, micropenis with or without cryptorchidism, and hypoplastic nipples in the brothers; and hypoplastic mammary glands and nipples, poor perspiration, and bicornuate uterus in the mother. Endocrine studies...

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Source

Identifiers

PMID: 12116211
DOI: 10.1002/ajmg.10447

Genes

TBX3

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Novel mutation of TBX3 in a Japanese family with ulnar-mammary syndrome: implication for impaired sex development.PMID 12116211Read ↗

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An inherited TBX3 alteration in a prenatal case of ulnar-mammary syndrome: Clinical assessment and functional characterization in Drosophila melanogaster.Semantic proximity Read ↗

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