Birt–Hogg–Dubé syndrome: novel FLCN frameshift deletion in daughter and father with renal cell carcinomas

Germline mutation of the FLCN gene causes Birt–Hogg–Dubé syndrome (BHD), a rare autosomal dominant condition characterized by skin fibrofolliculomas, lung cysts, spontaneous pneumothorax and renal tumours. We identified a hitherto unreported pathogenic FLCN frameshift deletion c.563delT (p.Phe188Ser...

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Detalles Bibliográficos
Autores principales: Näf, Ernst, Laubscher, Dominik, Hopfer, Helmut, Streit, Markus, Matyas, Gabor
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2015
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4698292/
https://www.ncbi.nlm.nih.gov/pubmed/26342594
http://dx.doi.org/10.1007/s10689-015-9837-5

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