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

• Main Authors: Hong-xin Pan (Author), Guang-nan Luo (Author), Sheng-qing Wan (Author), Cheng-lu Qin (Author), Jie Tang (Author), Meng Zhang (Author), Min Du (Author), Ke-ke Xu (Author), Jin-qiu Shi (Author)
• Format: Book
• Published: Elsevier, 2019-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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 a...