A novel missense heterozygous mutation in MAP3K1 gene causes 46, XY disorder of sex development: case report and literature review.

Aisha M Al-Shamsi Noura Al HassaniMoustafa HamchouRaya AlmazroueiAziz Mhanni

Published in: Molecular genetics & genomic medicine (2020)

This report adds to the genotype-phenotype correlation, highlighting the clinical importance of considering MAP3K1 gene defects as part of the differential diagnosis for complete or partial gonadal dysgenesis especially with multiple affected family members.

Keyphrases

copy number
genome wide
genome wide identification
high density
intellectual disability
gene expression