Digenic Origin of Difference of Sex Development in a Patient Harbouring DHX37 and MAMLD1 Variants.

Katia Margiotti Francesco Libotte Marco FabianiAlvaro MesoracaClaudio Giorlandino

Published in: Case reports in pediatrics (2024)

Based on our literature review, this is the first case with the combined presence of pathogenic mutations in the MAMLD1 gene and DHX37 gene in a patient with gonadal dysgenesis.

Keyphrases

case report
copy number
genome wide
genome wide identification
gene expression
genome wide analysis