Kabuki syndrome is a rare congenital malformation with typical facial features, skeletal anomalies, delayed neuropsychomotor development and growth, and cardiac, genitourinary, gastrointestinal, ...

The clinical presentation can mimic malignant tumours of infancy or childhood. Case Presentation: We describe a rare case of multicentric Infantile myofibromatosis in a 6-month-old infant presenting ...

Other Turner syndrome abnormalities include: X chromosome abnormalities. These can happen when your cells have one complete copy and one abnormal or missing copy of the X chromosome. Y chromosome ...

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 ...

We hypothesised that cognitive profiles in fibromyalgia (FM), chronic fatigue syndrome (CFS) and functional neurological disorders (FNDs) would provide a template for characterising FCD. Methods We ...

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 ...

One direct application of molecular testing is in the case of pregnancies in which two affected parents have the same or different autosomal dominant skeletal disorders (nonassortative mating).

Feb. 18, 2025 — A new psychological therapy has been found to reduce rates of violence and aggression among male offenders with antisocial personality disorder ... Multiple Sclerosis: Cell ...

Notably, while genes encoding hnRNPs exhibit ubiquitous expression, increasing evidence associate these proteins to various neurodevelopmental and neurodegenerative disorders, such as intellectual ...

Furthermore, multiple other factors, including cell type and developmental time point, can confound attempts to deconvolute the pathophysiology of these disorders. These challenges are further ...

Metabolic syndrome is a constellation of conditions that together increase the risk of type 2 diabetes, stroke, and cardiovascular problems, including heart attack. The features of metabolic syndrome ...