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- Partial gonadal dysgenesis associated with a pathogenic variant of PBX1 transcription factorFarnaaz Kia, Kyriakie Sarafoglou, Ashajyothi Mooganayakanakote Siddappa, Kari D RobertsBMJ Case Reports CP Jul 2019, 12 (7) e227986; DOI: 10.1136/bcr-2018-227986
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