Neurofibromatosis type 2

Summary Neurofibromatosis type 2 is an autosomal-dominant multiple neoplasia syndrome that results from mutations in the NF2 tumour suppressor gene located on chromosome 22q. It has a frequency of one in 25 000 livebirths and nearly 100% penetrance by 60 years of age. Half of patients inherit a germ...

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Veröffentlicht in:	The Lancet (British edition) 2009-06, Vol.373 (9679), p.1974-1986
Hauptverfasser:	Asthagiri, Ashok R, Dr, Parry, Dilys M, PhD, Butman, John A, MD, Kim, H Jeffrey, MD, Tsilou, Ekaterini T, MD, Zhuang, Zhengping, Prof, Lonser, Russell R, Prof
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences Cataract - etiology Cataracts Cell adhesion & migration Chromosomes, Human, Pair 22 - genetics Disease Progression Gene Frequency - genetics General aspects Genes, Neurofibromatosis 2 Genetic Testing Genetics Humans Internal Medicine Kinases Lesions Medical sciences Membranes Molecular Biology Mortality Mutation Mutation - genetics Nervous System Neoplasms - etiology Neurofibromatosis 2 - diagnosis Neurofibromatosis 2 - epidemiology Neurofibromatosis 2 - genetics Neurofibromatosis 2 - therapy Neurofibromin 2 - genetics Neurological disorders Neurology Patient Care Team - organization & administration Pedigree Penetrance Peripheral Nervous System Diseases - etiology Protein folding Skin Neoplasms - etiology Survival Rate Tumors of the nervous system. Phacomatoses
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