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Articles in Genetic disease
Learn about neurofibromatosis type 1
Neurofibromatosis type 1 (NF1) is the most common and well-understood neurodermatologic disease, with an incidence of approximately 1/3000 to 1 in 4000 individuals. NF1 is an autosomal dominant disease caused by mutations in the NF1 gene located on chromosome 17q11.2. Approximately 50% of NF1 cases are familial, and the remaining cases occur sporadically.
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Learn about neurofibromatosis type 2
Neurofibromatosis type 2 (NF2) is an autosomal dominant multisystem disease that often leads to the occurrence of multiple benign neuroendocrine tumors, central nervous system tumors, eye abnormalities, and nerve-skin lesions.
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