A novel familial germline mutation in the initiator codon of the BHD gene in a patient with Birt-Hogg-Dubé syndrome.
Bessis
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Service de Dermatologie, Hôpital Saint Eloi, Montpellier, France.
Giraud
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Richard
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D000328:Adult; D002648:Child; D004252:DNA Mutational Analysis; D005153:Facial Neoplasms / Q000235:genetics* / Q000473:pathology; D005260:Female; D005350:Fibroma / Q000235:genetics / Q000473:pathology; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics*; D010375:Pedigree; D011506:Proteins / Q000235:genetics*; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D012873:Skin Diseases, Genetic / Q000235:genetics; D012878:Skin Neoplasms / Q000235:genetics* / Q000473:pathology; D025521:Tumor Suppressor Proteins / Q000235:genetics*
C476078:FLCN protein, human; D011506:Proteins; D011518:Proto-Oncogene Proteins; D025521:Tumor Suppressor Proteins