Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency

Premature ovarian insufficiency (POI) is a common cause of infertility in women, characterised by amenorrhea and elevated FSH under the age of 40 years. In some cases, POI is syndromic in association with other features such as sensorineural hearing loss in Perrault syndrome. POI is a heterogeneous...

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Detalles Bibliográficos
Autores principales: Bakhshalizadeh, Shabnam, Hock, Daniella H., Siddall, Nicole A., Kline, Brianna L., Sreenivasan, Rajini, Bell, Katrina M., Casagranda, Franca, Kamalanathan, Sadishkumar, Sahoo, Jayaprakash, Narayanan, Niya, Naik, Dukhabandhu, Suryadevara, Varun, Compton, Alison G., Amarasekera, Sumudu S. C., Kapoor, Ridam, Jaillard, Sylvie, Simpson, Andrea, Robevska, Gorjana, van den Bergen, Jocelyn, Pachernegg, Svenja, Ayers, Katie L., Thorburn, David R., Stroud, David A., Hime, Gary R., Sinclair, Andrew H., Tucker, Elena J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2023
Materias:
Original Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10329598/
https://www.ncbi.nlm.nih.gov/pubmed/37148394
http://dx.doi.org/10.1007/s00439-023-02563-z

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