Clinical and molecular spectrum of 46,XY disorders of sex development that harbour MAMLD1 variations: case series and review of literature
Abstract 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...
Main Authors: | Lele Li, Chang Su, Lijun Fan, Fenqi Gao, Xuejun Liang, Chunxiu Gong |
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Format: | Article |
Language: | English |
Published: |
BMC
2020-07-01
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Series: | Orphanet Journal of Rare Diseases |
Subjects: | |
Online Access: | http://link.springer.com/article/10.1186/s13023-020-01459-9 |
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