Thorburn DR

ORCID: 0000-0002-7725-9470 · 1 paper in corpus
2023
Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency.
Human genetics ·doi:10.1007/s00439-023-02563-z

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 sensorineura…