fragile x syndrome (martin bell syndrome)

Coffin-Lowry Syndrome: Causes, Symptoms & Treatment

Coffin-Lowry syndrome is a malformation syndrome caused by a mutation. The patients’ mutation-defective RSK2 kinase loses its phosphotransferase activity and is responsible for the multiple malformations. Treatment of patients with the syndrome is purely symptomatic. What is Coffin-Lowry syndrome? Malformation syndromes are recurrent combinations of various malformations that are present from birth and affect multiple … Coffin-Lowry Syndrome: Causes, Symptoms & Treatment

Fragile X Syndrome (Martin Bell Syndrome): Causes, Symptoms & Treatment

Fragile X syndrome, also called Martin-Bell syndrome, is a genetic alteration of an X chromosome. The main features of the condition are mental deficits and an altered appearance. Fragile X syndrome cannot be treated, but it is possible to alleviate symptoms with appropriate therapies. What is fragile X syndrome? Fragile X syndrome is an inherited … Fragile X Syndrome (Martin Bell Syndrome): Causes, Symptoms & Treatment