Detection of de novo genetic variants in Mayer–Rokitansky–Küster–Hauser syndrome by whole genome sequencing

OBJECTIVE: The aim of this study was to use whole genome sequencing (WGS) help detect de novo mutations or pathogenic genes of Mayer-Rokitansky-Küster-Hauser syndrome type 1(MRKH syndrome type 1). STUDY DESIGN: This was a case-parent trios study. Nine unrelated probands, with MRKH syndrome type 1 an...

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Detalles Bibliográficos
Autores principales: Pan, Hong-xin, Luo, Guang-nan, Wan, Sheng-qing, Qin, Cheng-lu, Tang, Jie, Zhang, Meng, Du, Min, Xu, Ke-ke, Shi, Jin-qiu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Gynaecology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6728744/
https://www.ncbi.nlm.nih.gov/pubmed/31517310
http://dx.doi.org/10.1016/j.eurox.2019.100089

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