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Genetic, Genomic and Biophysical Case Study: Familial 46, XY Sex Reversal due to a Novel Inherited Mutation in Human Testis-Determining Factor SRY
Elisa Vaiani, Yen-Shan Chen, Pablo Ramirez, Joseph Racca, Maria Sonia Baquedano, Carmen Malosetti, Maria Sol Touzon, Roxana Marino, Mariana Costanzo, Marcela Bailez, Esperanza Berensztein, Maria Laura Galluzzo-Mutti, Deepak Chatterjee, Yanwu Yang, View ORCID ProfileAlicia Belgorosky, View ORCID ProfileMichael A. Weiss
doi: https://doi.org/10.1101/2021.05.05.442859
Elisa Vaiani
1Endocrine Department, Hospital de Pediatría Garrahan, Buenos Aires, Argentina
Yen-Shan Chen
2Department of Biochemistry & Molecular Biology, Indiana University School of Medicine, Indianapolis, IN 46202 USA
Pablo Ramirez
1Endocrine Department, Hospital de Pediatría Garrahan, Buenos Aires, Argentina
Joseph Racca
2Department of Biochemistry & Molecular Biology, Indiana University School of Medicine, Indianapolis, IN 46202 USA
Maria Sonia Baquedano
1Endocrine Department, Hospital de Pediatría Garrahan, Buenos Aires, Argentina
6Unidad de Investigación Garrahan –CONICET, Hospital de Pediatría Garrahan, Buenos Aires, Argentina
Carmen Malosetti
3Endocrine Department, Hospital de niños de San Justo, Buenos Aires, Argentina
Maria Sol Touzon
6Unidad de Investigación Garrahan –CONICET, Hospital de Pediatría Garrahan, Buenos Aires, Argentina
Roxana Marino
1Endocrine Department, Hospital de Pediatría Garrahan, Buenos Aires, Argentina
Mariana Costanzo
1Endocrine Department, Hospital de Pediatría Garrahan, Buenos Aires, Argentina
Marcela Bailez
4Surgery Department, Hospital de Pediatría Garrahan, Buenos Aires, Argentina.
Esperanza Berensztein
1Endocrine Department, Hospital de Pediatría Garrahan, Buenos Aires, Argentina
Maria Laura Galluzzo-Mutti
5Pathology Department, Hospital de Pediatría Garrahan, Buenos Aires, Argentina.
Deepak Chatterjee
2Department of Biochemistry & Molecular Biology, Indiana University School of Medicine, Indianapolis, IN 46202 USA
Yanwu Yang
2Department of Biochemistry & Molecular Biology, Indiana University School of Medicine, Indianapolis, IN 46202 USA
Alicia Belgorosky
1Endocrine Department, Hospital de Pediatría Garrahan, Buenos Aires, Argentina
6Unidad de Investigación Garrahan –CONICET, Hospital de Pediatría Garrahan, Buenos Aires, Argentina
Michael A. Weiss
2Department of Biochemistry & Molecular Biology, Indiana University School of Medicine, Indianapolis, IN 46202 USA
Article usage
Posted May 06, 2021.
Genetic, Genomic and Biophysical Case Study: Familial 46, XY Sex Reversal due to a Novel Inherited Mutation in Human Testis-Determining Factor SRY
Elisa Vaiani, Yen-Shan Chen, Pablo Ramirez, Joseph Racca, Maria Sonia Baquedano, Carmen Malosetti, Maria Sol Touzon, Roxana Marino, Mariana Costanzo, Marcela Bailez, Esperanza Berensztein, Maria Laura Galluzzo-Mutti, Deepak Chatterjee, Yanwu Yang, Alicia Belgorosky, Michael A. Weiss
bioRxiv 2021.05.05.442859; doi: https://doi.org/10.1101/2021.05.05.442859
Genetic, Genomic and Biophysical Case Study: Familial 46, XY Sex Reversal due to a Novel Inherited Mutation in Human Testis-Determining Factor SRY
Elisa Vaiani, Yen-Shan Chen, Pablo Ramirez, Joseph Racca, Maria Sonia Baquedano, Carmen Malosetti, Maria Sol Touzon, Roxana Marino, Mariana Costanzo, Marcela Bailez, Esperanza Berensztein, Maria Laura Galluzzo-Mutti, Deepak Chatterjee, Yanwu Yang, Alicia Belgorosky, Michael A. Weiss
bioRxiv 2021.05.05.442859; doi: https://doi.org/10.1101/2021.05.05.442859
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