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Updated: Jan 4, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

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Similar Cause, Different Phenotype: SOX9 Enhancer Duplication in a Family

Eva Pinti1, Henriett Piko2, Anna Lengyel3

  • 1II. Department of Pediatrics, Semmelweis University, Budapest, Hungary, 19peva91@gmail.com.

Hormone Research in Paediatrics
|October 30, 2019
PubMed
Abstract

Keywords:
46,XX ovotesticular DSDCopy number variationEnhancerMasculinizationSOX9

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