Heterozygous ZNHIT3 variants within the 17q12 recurrent deletion region are associated with Mayer-Rokitansky-Kuster Hauser (MRKH) syndrome

Autor: Brakta, Soumia, Du, Quansheng, Chorich, Lynn P., Hawkins, Zoe A., Sullivan, Megan E., Ko, Eun Kyung, Kim, Hyung-Goo, Knight, James, Taylor, Hugh S., Friez, Michael, Phillips, John A., III, Layman, Lawrence C.
Zdroj: In Molecular and Cellular Endocrinology 1 August 2024 589
Databáze: ScienceDirect