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Article

46,XY DSD and limb abnormalities in a female with a de novo LHX9 missense mutation.

American journal of medical genetics. Part A - 1 Dec 2020

Kunitomo Mia, Khokhar Aditi, Kresge Christina, Edobor-Osula Folorunsho, Pletcher Beth A

Abstract excerpt

Differences in sex development (DSD) are a group of rare conditions involving genes, hormones and reproductive organs, including genitals. Although these disorders are common, information about the molecular causes remain limited. Many genes have been identified in association with DSD but in many cases the causative gene could not be identified. The Lhx9 gene has been studied in mice and birds, and biallelic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32949097
DOI: 10.1002/ajmg.a.61860

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