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Article

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

Orphanet journal of rare diseases - 20 Jul 2020

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

Abstract excerpt

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 review the reported cases to evaluate the role of MAMLD1 variants in children with 46,XY DSD. Cases of 46,XY DSD...

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Identifiers

PMID: 32690052
DOI: 10.1186/s13023-020-01459-9
PMCID: PMC7370409

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