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Article

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

Journal of cellular physiology - 1 Dec 2024

Bottillo Irene, D'Alessandro Andrea, Ciccone Maria Pia, Cestra Gianluca, Di Giacomo Gianluca, Silvestri Evelina, Castori Marco, Brancati Francesco, Lenzi Andrea, Paiardini Alessandro, Majore Silvia, Cenci Giovanni, Grammatico Paola

Abstract excerpt

Ulnar mammary syndrome (UMS) results from heterozygous variants in the TBX3 gene and impacts limb, tooth, hair, apocrine gland, and genitalia development. The expressivity of UMS is highly variable with no established genotype-phenotype correlations. TBX3 belongs to the Tbx gene family, which encodes transcription factors characterized by the presence of a T-box DNA-binding domain. We describe a fetus exhibiting...

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Source

Open in PubMed Open full text

Identifiers

PMID: 39320041
DOI: 10.1002/jcp.31440
PMCID: PMC11649972

Genes

TBX3

Variants

Provenance

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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