{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T03:31:02Z","timestamp":1747193462431,"version":"3.40.5"},"reference-count":40,"publisher":"S. Karger AG","issue":"2-3","license":[{"start":{"date-parts":[[2021,10,25]],"date-time":"2021-10-25T00:00:00Z","timestamp":1635120000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2021,10,25]],"date-time":"2021-10-25T00:00:00Z","timestamp":1635120000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Sex Dev"],"published-print":{"date-parts":[[2022]]},"abstract":"<i>MAMLD1<\/i> (alias <i>CXorf6<\/i>) was first documented in 2006 as a causative gene of 46,XY differences\/disorders of sex development (DSD). <i>MAMLD1<\/i>\/<i>Mamld1<\/i> is expressed in the fetal testis and is predicted to enhance the expression of several Leydig cell-specific genes. To date, hemizygous <i>MAMLD1<\/i> variants have been identified in multiple 46,XY individuals with hypomasculinized external genitalia. Pathogenic <i>MAMLD1<\/i> variants are likely to cause genital abnormalities at birth and are possibly associated with age-dependent deterioration of testicular function. In addition, some <i>MAMLD1<\/i> variants have been identified in 46,XX individuals with ovarian dysfunction. However, recent studies have raised the possibility that <i>MAMLD1<\/i> variants cause 46,XY DSD and ovarian dysfunction as oligogenic disorders. Unsolved issues regarding MAMLD1 include the association between <i>MAMLD1<\/i> variants and 46,XX testicular DSD, gene-gene interactions in the development of <i>MAMLD1<\/i>-mediated DSD, and intracellular functions of MAMLD1. <\/jats:p>","DOI":"10.1159\/000519298","type":"journal-article","created":{"date-parts":[[2021,10,25]],"date-time":"2021-10-25T21:01:00Z","timestamp":1635195660000},"page":"126-137","source":"Crossref","is-referenced-by-count":3,"title":["MAMLD1 and Differences\/Disorders of Sex Development: An 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