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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...

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Detalles Bibliográficos
Autores principales: Yukawa, Takuro, Fukazawa, Takuya, Yoshida, Masakazu, Morita, Ichiro, Kato, Katsuya, Monobe, Yasumasa, Furuya, Mitsuko, Naomoto, Yoshio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: International Scientific Literature, Inc. 2016
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