Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency

Primary ovarian insufficiency (POI) is characterized by amenorrhea and loss or dysfunction of ovarian follicles prior to the age of 40. POI has been associated with autosomal recessive mutations in genes involving hormonal signaling and folliculogenesis, however, the genetic etiology of POI most oft...

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Veröffentlicht in:Hum Mol Genet
Hauptverfasser: Chen, Anlu, Tiosano, Dov, Guran, Tulay, Baris, Hagit N, Bayram, Yavuz, Mory, Adi, Shapiro-Kulnane, Laura, Hodges, Craig A, Akdemir, Zeynep C, Turan, Serap, Jhangiani, Shalini N, van den Akker, Focco, Hoppel, Charles L, Salz, Helen K, Lupski, James R, Buchner, David A
Format: Artigo
Sprache:Inglês
Veröffentlicht: Oxford University Press 2018
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Articles
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5961111/
https://ncbi.nlm.nih.gov/pubmed/29566152
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddy098
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