Associated Papers
A novel MAMLD1 variant in a newborn with hypospadias and elevated 17-hydroxyprogesterone.
Wang J et al.
Hormones (athens, Greece), 2024
MAMLD1 and Differences/Disorders of Sex Development: An Update.
Miyado M et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2022
Clinical and molecular spectrum of 46,XY disorders of sex development that harbour MAMLD1 variations: case series and review of literature.
Li L et al.
Orphanet Journal of Rare Diseases, 2020
Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease.
Flück CE et al.
Frontiers in Genetics, 2019
Long-term clinical course in three patients with MAMLD1 mutations.
Fujisawa Y et al.
Endocrine Journal, 2016
Human MAMLD1 Gene Variations Seem Not Sufficient to Explain a 46,XY DSD Phenotype.
Camats N et al.
Plos One, 2015
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