Simpson A

ORCID: 0000-0002-6681-0466 · 2 papers 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…

case-report 2008

Catamenial pneumothorax

Emergency medicine journal : EMJ ·doi:10.1136/emj.2008.062679

Pneumothorax is a potentially life-threatening condition caused by an accumulation of air or gas in the pleural space. This may occur either spontaneously or as a result of disease or injury. The term "catamenial" is derived from the Greek …