A novel missense heterozygous mutation in MAP3K1 gene causes 46, XY disorder of sex development: case report and literature review
Abstract Background Disorders of sex development (DSD) can result from congenital defect in sex determining pathway. Mitogen‐activated protein kinase kinase kinase 1 (MAP3K1) is one of the commonest genes that has been identified to cause 46, XY DSD. It can present as complete or partial gonadal dys...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2020-11-01
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| Series: | Molecular Genetics & Genomic Medicine |
| Online Access: | https://doi.org/10.1002/mgg3.1514 |