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 ...

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 ...

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 ...

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 ...

Wiskott-Aldrich syndrome is caused by a mutation in a gene responsible for producing a protein essential for the functioning of immune system cells. This gene is located on the X chromosome, so the ...

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.

Impact of NICE Guideline NG241 ‘Ovarian Cancer: identifying and managing familial and genetic risk’ on a regional NHS family history and clinical genetics service ...