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

ConclusionThis report adds to the genotype ‐phenotype correlation, highlighting the clinical importance of consideringMAP3K1 gene defects as part of the differential diagnosis for complete or partial gonadal dysgenesis especially with multiple affected family members.

Source: Molecular Genetics & Genomic Medicine - September 27, 2020 Category: Genetics & Stem Cells Authors: Aisha Al Shamsi, Noura Al Hassani, Moustafa Hamchou, Raya Almazrouei, Aziz Mhanni Tags: CLINICAL REPORT Source Type: research