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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 |
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Autors principals: | , , , , , , |
Format: | Artigo |
Idioma: | Inglês |
Publicat: |
2009
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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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