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Research carried out by Francis Crick Institute scientists provides new insights into sex chromosome disorders which typically cause infertility, such as Turner syndrome and Klinefelter syndrome. Thro...
Haemolytic uraemic syndrome is a form of thrombotic microangiopathy affecting predominantly the kidney and characterised by a triad of thrombocytopenia, mechanical haemolytic anaemia, and acute kidney...
The name of the gene is Armc5, for Armadillo repeat containing 5. Until now, its function was unknown. After 10 years of research, a team at the University of Montreal Hospital Research Centre (CRCHUM...
Doose syndrome or myoclonic-astatic epilepsy is a rare syndrome accounting for one to two percent of childhood epilepsies.
In this article, the author reviews the current understanding of the genetic basis for Down syndrome phenotypes, including congenital heart defects, Alzheimer disease and leukaemia. The potential for ...
Carpal tunnel syndrome can cause numbness and pain in the hand and stems from a problem in the wrist. Find out some tips for coping with this syndrome.
A pioneering new study scrutinising the genetic aetiology of Sjögren syndrome across different ancestries and clinical subtypes shows that the striking heterogeneity of associations observed in Sjög...
What is Pancoast syndrome, what are Pancoast tumors, and what is Homer’s syndrome? Learn about diagnosis, when to see a doctor, surgery, and prevention.
The Klinefelter syndrome (KS) is a genetic condition characterized by an X supernumerary sex chromosome in males. The syndrome is frequently associated with cognitive impairment. Indeed, the differen...
Klinefelter syndrome (KS) is a common condition in males resulting in androgen deficiency and cardiometabolic diseases. These conditions are likely related and may be present in pre-pubertal boys with...
Patients with Klinefelter's syndrome experience progressive testicular degeneration resulting in impaired endocrine function and azoospermia. What proportion of adolescents develop testosterone defici...
Klinefelter syndrome (KS) is one of the most common genetic causes of male infertility. This condition is associated with much comorbidity and with a lower life expectancy. The aim of this review is t...
The most common sex chromosome aneuploidy, Klinefelter syndrome (KS), is associated with primary gonadal failure and increased morbidity and mortality from cardiometabolic disorders in adulthood. Chil...