Functional genomics analysis identifies loss of HNF1B function as a cause of Mayer–Rokitansky–Küster–Hauser syndrome

Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome is a congenital condition characterized by aplasia or hypoplasia of the uterus and vagina in women with a 46,XX karyotype. This condition can occur as type I when isolated or as type II when associated with extragenital anomalies including kidney and sk...

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Detalles Bibliográficos
Autores principales: Thomson, Ella, Tran, Minh, Robevska, Gorjana, Ayers, Katie, van der Bergen, Jocelyn, Gopalakrishnan Bhaskaran, Prarthna, Haan, Eric, Cereghini, Silvia, Vash-Margita, Alla, Margetts, Miranda, Hensley, Alison, Nguyen, Quan, Sinclair, Andrew, Koopman, Peter, Pelosi, Emanuele
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9990990/
https://www.ncbi.nlm.nih.gov/pubmed/36282544
http://dx.doi.org/10.1093/hmg/ddac262

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9990990/
https://www.ncbi.nlm.nih.gov/pubmed/36282544
http://dx.doi.org/10.1093/hmg/ddac262

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