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Clinical Features, Genetics and Potential Therapeutic Approaches for Birt-Hogg-Dubé Syndrome
INTRODUCTION: Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant disorder that predisposes to fibrofolliculomas, pulmonary cysts, spontaneous pneumothorax and renal neoplasia. BHD is characterized by germline mutations in tumor suppressor FLCN. Inactivation of the remaining FLCN allele in kidney...
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| Publicado en: | Expert Opin Orphan Drugs |
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| Autores principales: | , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
2014
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4646088/ https://ncbi.nlm.nih.gov/pubmed/26581862 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1517/21678707.2014.987124 |
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