Posted inDiabetes & Endocrinology news Pediatrics
Biallelic CYB5A Disruptions in 46, XY Disorders of Sex Development: Novel Missense and Deep Intronic Variants in Two Vietnamese Siblings
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.
