Integral role of the mitochondrial ribosome in supporting ovarian function: mrps7 variants in syndromic premature ovarian insufficiency

HIGHLIGHTS

  • who: Brianna L. Kline and colleagues from the Murdoch Children`s Research Institute, Royal Children`s Hospital, Melbourne, VIC, Australia Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia have published the research: Integral Role of the Mitochondrial Ribosome in Supporting Ovarian Function: MRPS7 Variants in Syndromic Premature Ovarian Insufficiency, in the Journal: Genes 2022, 2113 of 10/Nov/2022
  • what: The authors provide independent replication of bi-allelic MRPS7 variants in association with syndromic POI. The authors provide a clinical update on the previously reported patient and compare her phenotype to the present case . . .

     

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