Birt-Hogg-Dubé syndrome: a large single family cohort

BACKGROUND: Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant condition characterized by dermatologic lesions, pulmonary manifestations, and renal tumors. The syndrome arises from germline mutations in the folliculin (FLCN) gene. We present findings from the single largest family BHD cohort des...

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Detalles Bibliográficos
Autores principales: Skolnik, Kate, Tsai, Willis H., Dornan, Kimberly, Perrier, Renée, Burrowes, Paul W., Davidson, Warren J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4770529/
https://www.ncbi.nlm.nih.gov/pubmed/26928018
http://dx.doi.org/10.1186/s12931-016-0339-2

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