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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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| Pubblicato in: | Expert Opin Orphan Drugs |
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| Autori principali: | , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2014
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| Soggetti: | |
| Accesso online: | 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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