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SUN-034 Combined CNV, Haplotyping and Whole Exome Sequencing Implicates Inherited Novel SRY Mutations Not Account for Familial 46,XY Sex Reversal

SRY is one of the important genes involved in the process of human sex determination. The disturbed sex determination caused by SRY mutation accounts for 10-15% cases with complete gonadal dysplasia (CGD), also known as 46, XY sex reversal. Recently, three distal enhancers are disclosed in the upstr...

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Detalles Bibliográficos
Autores principales:	Qiao, Jie, Wang, Nan, Zhu, Wenjiao, Han, Bing, Zhao, Shuangxia, Song, Huai-Dong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2020
Materias:	Reproductive Endocrinology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7207497/ http://dx.doi.org/10.1210/jendso/bvaa046.1164

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