Li Li L L Su Su C C Fan Fan L L Gao Gao F F Liang Liang X X Gong Gong C C Clinical and molecular spectrum of 46,XY disorders of sex development that harbour MAMLD1 variations: case series and review of literature Clinical and molecular spectrum of 46,XY disorders of sex development that harbour MAMLD1 variations: case series and review of literature Orphanet J Rare Dis Orphanet J Rare Dis 2020 2020 15 15 188 188 10.1186/s13023-020-01459-9 10.1186/s13023-020-01459-9 32690052 32690052. Here, MAMLD1 is linked to Genetic 46,XY disorder of sex development.