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Biallelic CYB5A Disruptions in 46, XY Disorders of Sex Development: Novel Missense and Deep Intronic Variants in Two Vietnamese Siblings
Diabetes & Endocrinology46case report

Biallelic CYB5A Disruptions in 46, XY Disorders of Sex Development: Novel Missense and Deep Intronic Variants in Two Vietnamese Siblings

By MedXY|Oct 11, 2026

This report describes two siblings with 46,XY DSD caused by novel biallelic CYB5A variants including a missense and a deep intronic mutation disrupting splicing, expanding knowledge of CYB5A-related disorders.

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