Associated Papers
Genetic variants and molecular profiling of 46,XY gonadal dysgenesis using whole-exome sequencing.
Zhang N et al.
Frontiers in Endocrinology, 2025
Deafness DFNB128 Associated with a Recessive Variant of Human MAP3K1 Recapitulates Hearing Loss of Map3k1-Deficient Mice.
Faridi R et al.
Genes, 2024
39062623 (PubMed )
Supplement: genes-15-00845-s001.zip › genes-3045527-supplementary.pdf
Identification of a novel MAP3K1 variant in a family with 46, XY DSD and partial growth hormone deficiency.
Cheng Y et al.
Molecular Medicine Reports, 2022
Ulerythema ophryogenes in association with MAP3K1-mutated Swyer syndrome.
Nimgaonkar I et al.
Jaad Case Reports, 2022
A novel missense heterozygous mutation in MAP3K1 gene causes 46, XY disorder of sex development: case report and literature review.
Al Shamsi A et al.
Molecular Genetics & Genomic Medicine, 2020
MAP3K1-related gonadal dysgenesis: Six new cases and review of the literature.
Granados A et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2017
Exome sequencing for the diagnosis of 46,XY disorders of sex development.
Baxter RM et al.
The Journal of Clinical Endocrinology and Metabolism, 2015
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