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Clinical and molecular spectrum of 46,XY disorders of sex development that harbour MAMLD1 variations: case series and review of literature

BACKGROUND: Mastermind-like domain-containing 1 (MAMLD1) has previously been identified as a causative gene for “46,XY Disorders of Sex Development (DSD)”. Recently, there has been some controversy regarding the causative role of MAMLD1 variations in DSDs. Here we describe a clinical series and revi...

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Detalles Bibliográficos
Autores principales:	Li, Lele, Su, Chang, Fan, Lijun, Gao, Fenqi, Liang, Xuejun, Gong, Chunxiu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2020
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7370409/ https://www.ncbi.nlm.nih.gov/pubmed/32690052 http://dx.doi.org/10.1186/s13023-020-01459-9

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