Klinefelter syndrome is a genetic condition that affects only males. Here's what you should know about the causes, symptoms, and treatment options for the condition. Klinefelter syndrome is a genetic ...

which evidenced a missense variant of uncertain significance in exon 38 of the KMT2D gene. This phenotype further suggested Kabuki syndrome, ruling out CHARGE. The present report highlights the ...

June 13, 2024 — A viral gene therapy has reversed some brain abnormalities in infant mice with FOXG1 syndrome, a significant step toward one day treating children with this severe neurodevelopmental ...

Feb. 19, 2025 — Researchers have found a compound in ginger, called furanodienone (FDN), that selectively binds to and regulates a nuclear receptor involved in inflammatory bowel disease (IBD ...

a Vitreoretinal Service, Department of Ophthalmology, Box 41, Addenbrooke’s Hospital, Hills Road, Cambridge CB2 2QQ, UK, b Department of Medical Genetics, University of Cambridge, Box 134, Addenbrooke ...

Genetics is the branch of science concerned with genes, heredity, and variation in living organisms. It seeks to understand the process of trait inheritance from parents to offspring, including ...

by Dr Esther Corker, Dr Claire McCall and Dr Liz Marder ...

1 Clinical and Molecular Genetics, Institute of Child Health, UCL, London, UK 2 Institute of Ophthalmology, UCL, London, UK Background Usher syndrome (USH) is an autosomal recessive disorder ...

Discover what kabuki tells us about Japanese attitudes to swords, which feature in many legends and transcend the realm of weapons. Within each awe-inspiring Japanese sword, they say, dwells a spirit.