Associated Papers
A novel MAMLD1 variant in a newborn with hypospadias and elevated 17-hydroxyprogesterone.
Wang J et al.
Hormones (athens, Greece), 2024
Digenic Origin of Difference of Sex Development in a Patient Harbouring DHX37 and MAMLD1 Variants.
Margiotti K et al.
Case Reports in Pediatrics, 2024
A comprehensive study of common and rare genetic variants in spermatogenesis-related loci identifies new risk factors for idiopathic severe spermatogenic failure.
Guzmán-Jiménez A et al.
Human Reproduction Open, 2024
39678461 (PubMed )
Supplement: hoae069_supplementary_data.zip › supplementary_tables.xlsx › _S13
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
Molecular genetics of hypospadias and cryptorchidism recent developments.
Kalfa N et al.
Clinical Genetics, 2019
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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