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[Advance in research on the role of MAMLD1 gene in disorders of sex development].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Sept 2021

Gao Fenqi, Gong Chunxiu, Li Lele

Abstract excerpt

MAMLD1 gene has been implicated in 46,XY disorders of sex development (DSD) in recent years. Patients carrying MAMLD1 gene variants showed a "continuous spectrum" of simple micropenis, mild, moderate and severe hypospadias with micropenis, cryptorchidism, split scrotum and even complete gonadal dysplasia. The function of MAMLD1 gene in sexual development has not been fully elucidated, and its role in DSD has...

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PMID: 34487543
DOI: 10.3760/cma.j.cn511374-20200913-00666

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