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 | Full Text

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 | Full Text

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

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 ro...

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

Citation:Orphanet Journal of Rare Diseases 2020 15:188

Content type:Research

 

Published on: 20 July 2020

• ViewFull Text
 
• ViewPDF