Rare missense variant inMSH4associated with primary gonadal failure in both 46, XX and 46, XY individuals

Autor: Mehdi Totonchi, Mehri Mashayekhi, Ken McElreavey, Navid Almadani, Anu Bashambou, Arvand Akbari, Kimiya Padidar, Najmeh Salehi, Mohammad Ali Sadighi Gilani

Publikováno v: Human Reproduction
Human Reproduction, 2021, 36 (4), pp.1134-1145. ⟨10.1093/humrep/deaa362⟩
Human Reproduction, Oxford University Press (OUP), 2021, 36 (4), pp.1134-1145. ⟨10.1093/humrep/deaa362⟩

STUDY QUESTIONCan whole-exome sequencing (WES) reveal a shared pathogenic variant responsible for primary gonadal failure in both male and female patients from a consanguineous family?SUMMARY ANSWERPatients with primary ovarian insufficiency (POI) an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7fbb6fadc8926a4bf1f45ebf363194ab
https://doi.org/10.1093/humrep/deaa362