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A Case of Birt-Hogg-Dubé (BHD) Syndrome Harboring a Novel Folliculin (FLCN) Gene Mutation
Patient: Female, 56 Final Diagnosis: Birt-Hogg-Dubé syndrome Symptoms: Dyspnea Medication: — Clinical Procedure: — Specialty: Pulmonology OBJECTIVE: Rare disease BACKGROUND: Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant disorder clinically characterized by pulmonary cysts, spontaneous pneum...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
International Scientific Literature, Inc.
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5083040/ https://www.ncbi.nlm.nih.gov/pubmed/27780965 http://dx.doi.org/10.12659/AJCR.899407 |