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Neurofibromatosis type 2

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 germline mut...

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Publicat a:Lancet
Autors principals: Asthagiri, Ashok R, Parry, Dilys M, Butman, John A, Kim, H Jeffrey, Tsilou, Ekaterini T, Zhuang, Zhengping, Lonser, Russell R
Format: Artigo
Idioma:Inglês
Publicat: 2009
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4748851/
https://ncbi.nlm.nih.gov/pubmed/19476995
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/S0140-6736(09)60259-2
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