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Article

Genetic and phenotypic continuum of HOXA genes: A case with double HOXA9/HOXA13 mutations.

Molecular medicine reports - 1 Mar 2023

Jaouadi Hager, Theron Alexis, Norscini Giulia, Avierinos Jean-François, Zaffran Stéphane

Abstract excerpt

The HOXA genes cluster plays a key role in embryologic development. Mutations in HOXA genes have been linked to different human phenotypes, including developmental delay, limb anomalies, and urogenital malformations. The present study reported a clinical and genetic investigation of a female patient with polymalformative syndrome including left arm agenesis, bicornuate uterus and bicuspid aortic valve. Using...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36734258
DOI: 10.3892/mmr.2023.12946
PMCID: PMC9936258

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