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Article

Disorders of Sex Development in Individuals Harbouring MAMLD1 Variants: WES and Interactome Evidence of Oligogenic Inheritance.

Frontiers in endocrinology - 1 Jan 2020

Li Lele, Gao Fenqi, Fan Lijun, Su Chang, Liang Xuejun, Gong ChunXiu

Abstract excerpt

Mastermind-like domain-containing 1 (MAMLD1) has been shown to play an important role in the process of sexual development and is associated with 46,XY disorders of sex development (DSDs). However, the causative role of MAMLD1 variations in DSDs remains disputable. In this study, we have described a clinical series on children from unrelated families with 46,XY DSD harbouring MAMLD1 variants. Whole exome...

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Identifiers

PMID: 33424767
DOI: 10.3389/fendo.2020.582516
PMCID: PMC7786837

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