Associated Papers
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
Disorders of Sex Development in Individuals Harbouring MAMLD1 Variants: WES and Interactome Evidence of Oligogenic Inheritance.
Li L et al.
Frontiers in Endocrinology, 2020
Polymorphism of 3' UTR of MAMLD1 gene is also associated with increased risk of isolated hypospadias in Indian children: a preliminary report.
Ratan SK et al.
Pediatric Surgery International, 2016
A novel hemizygous mutation of MAMLD1 in a patient with 46,XY complete gonadal dysgenesis.
Ruiz-Arana IL et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2015
Human MAMLD1 Gene Variations Seem Not Sufficient to Explain a 46,XY DSD Phenotype.
Camats N et al.
Plos One, 2015
Screening of MAMLD1 mutations in 70 children with 46,XY DSD: identification and functional analysis of two new mutations.
Kalfa N et al.
Plos One, 2012
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