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 ...

“Chanarin–Dorfman Syndrome”, “Dorfman–Chanarin syndrome”, “congenital ichthyosiform erythroderma”, “neutral lipid storage disorder”, “ABHD5/CGI-58 mutation” and “Jordan’s anomaly”. The patients’ race, ...

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 ...

Methods We examined the UBA1 gene ... a new mutation p.Gly477Ala (c.1430G>C) in exon 14 that has not yet been identified. The presence of these variants and their allelic forms (heterozygous / ...

Figure 3: ORNT1 expression restores incorporation of ornithine radiolabel into cellular protein in HHH fibroblasts. Figure 6: Two-colour FISH analysis of a metaphase chromosome spread from HHH011 ...

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 ...

Turner syndrome is a rare genetic disorder found in some women and people assigned female at birth. It can cause short stature and a range of health issues including heart defects, learning ...

Rare diseases (RDs), more than 80% of which have a genetic origin, collectively affect approximately 350 million people worldwide. Progress in next-generation sequencing technology has both greatly ...

Taysha Gene Therapies' TSHA-102 tackles Rett syndrome’s root cause with its ... as it specifically targets the MECP2 mutation present in Rett. As far as we know, Rett occurs in roughly 1 out ...

With its distinctive kumadori make-up, vibrant costumes, and dynamic action, the kabuki theater occupies a central position in Japan’s performing arts and is an immediately recognizable symbol ...