Publications by authors named "Sheng-Qing Wan"
Detection of genetic variants in Mayer-Rokitansky-Küster-Hauser syndrome by whole genome sequencing.
Eur J Obstet Gynecol Reprod Biol X
October 2019
Article Synopsis
- This study aimed to use whole genome sequencing (WGS) to identify mutations related to Mayer-Rokitansky-Küster-Hauser syndrome type 1 (MRKH syndrome type 1) in patients and their parents.
- It involved nine unrelated patients (probands) with MRKH and led to the identification of numerous genetic variations, including 632 single nucleotide variants, 267 small insertions/deletions, and 39 structural variations over a two-year period.
- The researchers discovered five notable mutations in key genes, suggesting that WGS can effectively enhance understanding of MRKH's genetic landscape and guide further investigations into the syndrome's pathogenesis.