Gorlin syndrome: the PTCH gene links ocular developmental defects and tumour formation

Aim: To identify a gene linking microphthalmia with cyst with early onset medulloblastoma. Methods: Mutation analysis of the PTCH gene. Results: A mutation in exon 10 of the PTCH gene was identified, confirming a diagnosis of Gorlin syndrome. Conclusions: This is the first genetically identified mut...

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Detalhes bibliográficos
Main Authors: Ragge, N K, Salt, A, Collin, J R O, Michalski, A, Farndon, P A
Formato: Artigo
Idioma:Inglês
Publicado em: Copyright 2005 British Journal of Ophthalmology 2005
Assuntos:
Clinical Science - Scientific Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1772759/
https://ncbi.nlm.nih.gov/pubmed/16024850
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bjo.2004.061390
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