Article

Clinical and molecular spectrum of 46,XY disorders of sex development that harbourMAMLD1 variations: Case series and review of literature

2020-06-22

Abstract excerpt

<title>Abstract</title> <p><bold>Background </bold><italic>Mastermind-like domain-containing 1</italic> (<italic>MAMLD1</italic>) 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 <italic>MAMLD1</italic> variations in DSDs. Here we describe a clinical series and review the reported cases to e...

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Literature Corpus work: c866d9d8-565f-566c-8850-0bcf7aaa9ecf
DOI: 10.21203/rs.3.rs-16044/v3

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