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In Tandem Intragenic Duplication of Doublesex and Mab-3-Related Transcription Factor 1 (DMRT1) in an SRY-Negative Boy with a 46,XX Disorder of Sex Development

12 Nov 2023

Abstract excerpt

Disorders of sexual development (DSDs) encompass a group of congenital conditions associated with atypical development of internal and external genital structures. Among those with DSDs are 46,XX males, whose condition mainly arises due to the translocation of SRY onto an X chromosome or an autosome. In the few SRY-negative 46,XX males, overexpression of other pro-testis genes or failure of...

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Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Sexual Differentiation and Disorders
Sperm and Testicular Function

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 38003010
DOI: 10.3390/genes14112067

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