Identification of Novel and Known Variants in Epigenetic Genes Associated with Syndromic 46,XY Differences of Sex Development among Moroccan Patients.

doi:10.1159/000549398

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Article

Identification of Novel and Known Variants in Epigenetic Genes Associated with Syndromic 46,XY Differences of Sex Development among Moroccan Patients.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - 1 Jan 2026

Cherkaoui Imane, Lhousni Saida, Elidrissi Errahhali Manal, Charif Majida, Amrani Rim, Elouali Aziza, Allaoui Sanae, Elidrissi Errahhali Mounia, Ouarzane Meryem, Lenaers Guy, Sellam Adnane, Bellaoui Mohammed, Boulouiz Redouane

Abstract excerpt

INTRODUCTION: 46,XY differences of sex development (DSD) are conditions with extreme phenotypic and genetic heterogeneity. Therefore, their diagnosis remains a major challenge for both clinicians and geneticists. In this study, we aimed to identify the underlying genetic causes of DSD in a series of 3 Moroccan patients with syndromic 46,XY DSD recruited in the BRO Biobank. CASE PRESENTATIONS: Methods: Karyotyping...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41666144
DOI: 10.1159/000549398

Genes

CHD7
KAT6B
KMT2D
SRY

Variants

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