OSR1 disruption contributes to uterine factor infertility via impaired Müllerian duct development and endometrial receptivity

Three sisters, born from consanguineous parents, manifested a unique Müllerian anomaly characterized by uterine hypoplasia with thin estrogen-unresponsive endometrium and primary amenorrhea, but with spontaneous tubal pregnancies. Through whole-exome sequencing followed by comprehensive genetic anal...

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Detalles Bibliográficos
Autores principales: Lofrano-Porto, Adriana, Pereira, Sidney Alcântara, Dauber, Andrew, Bloom, Jordana C.B., Fontes, Audrey N., Asimow, Naomi, de Moraes, Olívia Laquis, Araujo, Petra Ariadne T., Abreu, Ana Paula, Guo, Michael H., De Oliveira, Silviene F., Liu, Han, Lee, Charles, Kuohung, Wendy, Coelho, Michella S., Carroll, Rona S., Jiang, Rulang, Kaiser, Ursula B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10688984/
https://www.ncbi.nlm.nih.gov/pubmed/37847567
http://dx.doi.org/10.1172/JCI161701

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