<i>STARD9</i>and<i>CDK5RAP2</i>– novel candidate genes for oligogenic 46,XY complete gonadal dysgenesis

Abstract excerpt

<h4>ABSTRACT</h4> 46,XY gonadal dysgenesis (46,XY GD) results from disruptions in the genetic program that governs testicular differentiation during gonadal sex determination, presenting as either complete (46,XY CGD) or partial (46,XY PGD) forms. While monogenic defects account for approximately 50% of cases, recent evidence suggests an oligogenic basis for some 46,XY GD cases. In this study, we investigated a ca...

Topics

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• Child
• Gene Regulatory Networks
• Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
• Gonadal Dysgenesis, 46,XY
• Mutation
• Sexual Development
• Sexual Differentiation and Disorders
• Testis

Identifiers and source

Literature Corpus work

75df1d76-de42-579b-ae2a-673d29b5dffe

DOI

10.1101/2025.05.10.25326049