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Identification of compound heterozygous variants in MSH4 as a novel genetic cause of diminished ovarian reserve

BACKGROUND: Diminished ovarian reserve (DOR) is a common cause of female infertility, with genetic factors being a significant contributor. However, due to high genetic heterogeneity, the etiology of DOR in many cases remains unknown. In this study, we analyzed the phenotype of a young woman with pr...

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Detalles Bibliográficos
Autores principales: Wan, Yingjing, Hong, Zhidan, Ma, Binyu, He, Xuanyi, Ma, Ling, Wang, Mei, Zhang, Yuanzhen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10464148/
https://www.ncbi.nlm.nih.gov/pubmed/37620942
http://dx.doi.org/10.1186/s12958-023-01127-0