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Café au lait spot characteristic of NF1 Diagnostic criteria of neurofibromatosis type I, requiring at least 2 of the mentioned items. [6]The following is a list of conditions and complications associated with NF-1, and, where available, age range of onset and progressive development, occurrence percentage of NF-1 population, method of earliest diagnosis, and treatments and related medical ...
If one parent has neurofibromatosis, his or her children have a 50% chance of developing the condition as well. The severity of the parent's condition does not affect the child; the affected child may have mild NF1 even though it was inherited from a parent with a severe form of the disorder. [14] The types of neurofibromatosis are:
NF1 has one of the highest mutation rates amongst known human genes, [23] however mutation detection is difficult because of its large size, the presence of pseudogenes, and the variety of possible mutations. [24] The NF1 locus has a high incidence of de novo mutations, meaning that the mutations are not inherited maternally or paternally. [19]
A neurofibroma is a benign nerve-sheath tumor in the peripheral nervous system.In 90% of cases, they are found as stand-alone tumors (solitary neurofibroma, solitary nerve sheath tumor [1] or sporadic neurofibroma [1]), while the remainder are found in persons with neurofibromatosis type I (NF1), an autosomal-dominant genetically inherited disease.
CHR 15. Legius syndrome is a phakomatosis [8] and a RASopathy, a developmental syndrome due to germline mutations in genes. [7] [9] The condition is autosomal dominant in regards to inheritance and caused by mutations to the SPRED1 gene at chromosome 15, specifically 15q14 (or (GRCh38): 15:38,252,086-38,357,248).
Neurofibromatosis type I, a genetic disorder that can cause tumors (can be cancerous) and other health effects such as vision impairment, imbowed legs, and joint pain. Neurofibromin 1, a protein associated with the disorder above. Nuclear factor 1, a transcription factor. NF-1, a variant of the AA-52 machine gun rechambered for 7.62 NATO ...
Like father, like son! George Clooney, 56, is one of the hottest Hollywood stars today, but there's was one family member who held that title before he ever stepped onto the scene -- his dad!
This condition is inherited in an autosomal dominant manner. ... Watson syndrome is allelic to NF1, the same gene associated with neurofibromatosis type 1. [2] See also