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 ...

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 ...

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 ...

Six months later, however, the doctors sat the couple down and gave them the news that was going to change their lives. “We were told that Javier had Wiskott-Aldrich syndrome, a rare genetic disease ...

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 ...

Gene regulation refers to the mechanisms that act to induce or repress the expression of a gene. These include structural and chemical changes to the genetic material, binding of proteins to ...

Hirsutism Hypertrichosis Condition characterized by excessive growth of hair. May be genetic, hormonal, or drug induced. Hypotrichosis Alopecia Abnormal deficiency of hair. Usually describes lack ...

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.

The company is also deploying a CNS precision medicine approach with vafidemstat in genetically-defined patient subpopulations of certain CNS disorders and is evaluating a clinical trial in Kabuki ...

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