Female-to-male sex reversal associated with unique Xp21.2 deletion disrupting genomic regulatory architecture of the dosage-sensitive sex reversal region.

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作者： Pankaj,Dangle ^[1] ; María Sol,Touzon ^[2] ; Miguel,Reyes-Múgica ^[3] ; Selma F,Witchel ^[4] ; Aleksandar,Rajkovic ^[5] ; Francis X,Schneck ^[2] ; Svetlana A,Yatsenko ^[6]

作者单位： Department of Urology, Children's Hospital of Pittsburgh of the University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, USA. ^[1] Magee-Womens Research Institute, Pittsburgh, Pennsylvania, USA. ^[2] Laboratorio de Biología Molecular Servicio de Endocrinología, Hospital de Pediatría Dr Juan P Garrahan, Buenos Aires, Argentina. ^[3] Department of Pathology, Children's Hospital of Pittsburgh of the University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, USA. ^[4] Division of Pediatric Endocrinology, Children's Hospital of Pittsburgh of the University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, USA. ^[5] Department of Obstetrics, Gynecology and Reproductive Sciences, Magee-Womens Research Institute, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA. ^[6] Department of Human Genetics, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA. ^[7] Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA. ^[8]

关键词 MAGEB1 NR0B1gene MAGEB4 XX male Xp21 deletion regulatory elements sex reversal