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Diagnostic Application of Targeted Next-Generation Sequencing of 80 Genes Associated with Disorders of Sexual Development

Disorders of sexual development (DSD) are estimated to occur in 1 of 4500 births. Since the genetic etiology of DSD is highly heterogeneous, obtaining a definitive molecular diagnosis by single gene test is challenging. Utilizing a high-throughput sequencing upfront is proposed as an efficient appro...

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Detalles Bibliográficos
Autores principales: Fan, Yanjie, Zhang, Xia, Wang, Lili, Wang, Ruifang, Huang, Zhuo, Sun, Yu, Yao, Ruen, Huang, Xiaodong, Ye, Jun, Han, Lianshu, Qiu, Wenjuan, Zhang, Huiwen, Liang, Lili, Gu, Xuefan, Yu, Yongguo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5353765/
https://www.ncbi.nlm.nih.gov/pubmed/28295047
http://dx.doi.org/10.1038/srep44536