High Risk of Gestational Trophoblastic Neoplasia Development in Recurrent Hydatidiform Moles with NLRP7 Pathogenic Variations

Autor: Kocabey M., Gulhan I., Koc A., Cankaya T., Karatasli V., Ileri A.
Jazyk: angličtina
Rok vydání: 2022
Předmět:
Zdroj: Balkan Journal of Medical Genetics, Vol 25, Iss 2, Pp 45-50 (2022)
Druh dokumentu: article
ISSN: 2199-5761
DOI: 10.2478/bjmg-2022-0025
Popis: Pathogenic variations of the NLRP7 and KHDC3L genes are responsible for familial recurrent hydatidiform moles, a rare autosomal recessive phenomenon that can lead to severe comorbidities. Little is known about the diversity of genetic defects or the natural course of disease progression among recurrent hydatidiform mole cases from distinct ethnicities. In this study, we aimed to investigate the mutation profile and pregnancy outcomes in patients with multiple molar pregnancies.
Databáze: Directory of Open Access Journals
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