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- W3094740523 abstract "Neurofibromatosis type 1 (NF1) is an autosomal dominant condition with a high degree of variability in clinical expression. Although it is fully penetrant in adults, there is an age-related penetrance for a number of the clinical manifestations. Diagnosis is primarily based on multiple characteristic café-au-lait macules, distinctive freckling patterns, and dermal neurofibromas. Other diagnostic criteria include Lisch nodules, distinctive skeletal abnormalities (sphenoid wing dysplasia, tibial dysplasia with pseudarthrosis and dystrophic scoliosis), optic nerve pathway tumors, and plexiform neurofibromas. Other relatively common manifestations include small stature, macrocephaly, learning disabilities, and communication/social skills delays that border on autism spectrum disorder. Neurofibromatosis type 1 affects approximately 1 in 3000 individuals worldwide. The gene for NF1 maps to chromosome 17q11.2, and inactivating mutations in the NF1 gene lead to decreased levels of neurofibromin and increased signaling through the intracellular Ras/MAPK pathway. In addition to supportive care and surgical intervention, medical treatments targeting the Ras pathway are being developed and implemented for some manifestations of NF1." @default.
- W3094740523 created "2020-11-09" @default.
- W3094740523 creator A5039716945 @default.
- W3094740523 date "2020-10-30" @default.
- W3094740523 modified "2023-09-27" @default.
- W3094740523 title "NEUROFIBROMATOSIS TYPE 1" @default.
- W3094740523 cites W114566559 @default.
- W3094740523 cites W1757000446 @default.
- W3094740523 cites W1964332464 @default.
- W3094740523 cites W1966179399 @default.
- W3094740523 cites W1967544628 @default.
- W3094740523 cites W1990880437 @default.
- W3094740523 cites W1991137919 @default.
- W3094740523 cites W1993458150 @default.
- W3094740523 cites W1995607634 @default.
- W3094740523 cites W1997887695 @default.
- W3094740523 cites W1999818565 @default.
- W3094740523 cites W2001157869 @default.
- W3094740523 cites W2002368280 @default.
- W3094740523 cites W2006211674 @default.
- W3094740523 cites W2008029818 @default.
- W3094740523 cites W2010590846 @default.
- W3094740523 cites W2010926229 @default.
- W3094740523 cites W2013355993 @default.
- W3094740523 cites W2013373629 @default.
- W3094740523 cites W2014159406 @default.
- W3094740523 cites W2015507477 @default.
- W3094740523 cites W2016846444 @default.
- W3094740523 cites W2018988398 @default.
- W3094740523 cites W2022971724 @default.
- W3094740523 cites W2026039752 @default.
- W3094740523 cites W2026686051 @default.
- W3094740523 cites W2031995432 @default.
- W3094740523 cites W2033021733 @default.
- W3094740523 cites W2037609465 @default.
- W3094740523 cites W2041225275 @default.
- W3094740523 cites W2044072561 @default.
- W3094740523 cites W2044896068 @default.
- W3094740523 cites W2044976670 @default.
- W3094740523 cites W2048140690 @default.
- W3094740523 cites W2048283469 @default.
- W3094740523 cites W2050724926 @default.
- W3094740523 cites W2052325570 @default.
- W3094740523 cites W2060314412 @default.
- W3094740523 cites W2062795391 @default.
- W3094740523 cites W2062855689 @default.
- W3094740523 cites W2066209628 @default.
- W3094740523 cites W2071412715 @default.
- W3094740523 cites W2072944463 @default.
- W3094740523 cites W2076935577 @default.
- W3094740523 cites W2080549930 @default.
- W3094740523 cites W2084612017 @default.
- W3094740523 cites W2088004537 @default.
- W3094740523 cites W2088431179 @default.
- W3094740523 cites W2089591280 @default.
- W3094740523 cites W2092473822 @default.
- W3094740523 cites W2094033908 @default.
- W3094740523 cites W2102323069 @default.
- W3094740523 cites W2102966544 @default.
- W3094740523 cites W2103344965 @default.
- W3094740523 cites W2105518445 @default.
- W3094740523 cites W2108447730 @default.
- W3094740523 cites W2110235266 @default.
- W3094740523 cites W2112147941 @default.
- W3094740523 cites W2113286019 @default.
- W3094740523 cites W2128140173 @default.
- W3094740523 cites W2129976040 @default.
- W3094740523 cites W2132906245 @default.
- W3094740523 cites W2136358316 @default.
- W3094740523 cites W2137036286 @default.
- W3094740523 cites W2140892832 @default.
- W3094740523 cites W2146326641 @default.
- W3094740523 cites W2147849339 @default.
- W3094740523 cites W2155504767 @default.
- W3094740523 cites W2163393726 @default.
- W3094740523 cites W2163563652 @default.
- W3094740523 cites W2171756643 @default.
- W3094740523 cites W2291991964 @default.
- W3094740523 cites W2330798445 @default.
- W3094740523 cites W2433236290 @default.
- W3094740523 cites W2506909061 @default.
- W3094740523 cites W2559893189 @default.
- W3094740523 cites W2567378356 @default.
- W3094740523 cites W2588561047 @default.
- W3094740523 cites W2588625947 @default.
- W3094740523 cites W2619995112 @default.
- W3094740523 cites W2801840800 @default.
- W3094740523 cites W2887111841 @default.
- W3094740523 cites W3143653395 @default.
- W3094740523 cites W4243596681 @default.
- W3094740523 cites W4253368897 @default.
- W3094740523 cites W4256158945 @default.
- W3094740523 doi "https://doi.org/10.1002/9781119432692.ch40" @default.
- W3094740523 hasPublicationYear "2020" @default.
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