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Neurofibromatosis type I ( NF-1 ), or von Recklinghausen syndrome, is a complex multi-system human disorder caused by the mutation of neurofibromin 1 (NF-1), a gene on chromosome 17 that is responsible for production of a protein (neurofibromin) which is needed for normal function in many human cell types. NF-1 causes tumors along the nervous ...
Neurofibromatosis type I is the most common of the three types and is caused by genetic changes in the NF1 gene located on chromosome 17 (17q11.2). This gene encodes a cytoplasmic protein known the neurofibromin, which functions as a tumor suppressor and therefore serves as a signal regulator of cell proliferation and differentiation.
Main symptoms of neurofibromatosis type I [28] Mutations in NF1 are primarily associated with neurofibromatosis type 1 (NF1, also known as von Recklinghausen syndrome). [6] [7] NF1 is the most common single gene disorder in humans, occurring in about 1 in 2500–3000 births worldwide. [29]
Oncology. The term fibromatosis refers to a group of soft tissue tumors [1] which have certain characteristics in common, including absence of cytologic and clinical malignant features, a histology consistent with proliferation of well-differentiated fibroblasts, an infiltrative growth pattern, and aggressive clinical behavior with frequent ...
Here’s a fact: Heart disease kills more people worldwide, including in the U.S., than any other cause, according to the Centers for Disease Control and Prevention (CDC). Nearly half of American ...
1 in 1000 (1 in 2,000 severe disease) [ 4] Named after. Jacqueline Noonan. Noonan syndrome ( NS) is a genetic disorder that may present with mildly unusual facial features, short height, congenital heart disease, bleeding problems, and skeletal malformations. [ 1] Facial features include widely spaced eyes, light-colored eyes, low-set ears, a ...
Joseph Carey Merrick (5 August 1862 – 11 April 1890), often erroneously called John Merrick, was an English artist known for his severe physical deformities.He was first exhibited at a freak show under the stage name "the Elephant Man", and then went to live at the London Hospital, in Whitechapel, after meeting Sir Frederick Treves, subsequently becoming well known in London society.
Arrhythmogenic cardiomyopathy ( ACM) is an inherited heart disease. [ 1] ACM is caused by genetic defects of parts of the cardiac muscle known as desmosomes, areas on the surface of muscle cells which link them together. The desmosomes are composed of several proteins, and many of those proteins can have harmful mutations .