Neurofibromatosis Type 1 Revisited

Neurofibromatosis type 1 (NF1) is an autosomal dominant condition with a worldwide incidence of approximately 1 per 2500 to 3000 individuals. Caused by a germ-line-inactivating mutation in the NF1 gene on chromosome 17, the disease is associated with increased morbidity and mortality. In the past se...

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Veröffentlicht in:	Pediatrics (Evanston) 2009-01, Vol.123 (1), p.124-133
Hauptverfasser:	Williams, Virginia C, Lucas, John, Babcock, Michael A, Gutmann, David H, Korf, Bruce, Maria, Bernard L
Format:	Artikel
Sprache:	eng
Schlagworte:	Binding proteins Care and treatment Chromosomes Demographic aspects Development and progression Disease management Genes Genes, Neurofibromatosis 1 - physiology Genetic aspects Genetic Counseling - methods Genetic disorders Humans Mutation Neurofibromatosis Neurofibromatosis 1 - diagnosis Neurofibromatosis 1 - genetics Neurofibromatosis 1 - therapy Neurofibromin 1 - genetics Neurofibromin 1 - physiology Pediatrics Therapy
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