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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: Genetic insight into Birt–Hogg–Dubé syndrome in Indian patients reveals novel mutations at FLCN

Fig. 1

Pathogenic mutations at FLCN found in patients and asymptomatic members along with their phenotypes. Light blue boxes represent exons and green boxes are exons with pathogenic mutations in FLCN. Most pathogenic mutations were found between exons 10–13. Circles indicate females, squares males. Family numbers are denoted in grey boxes with patients and asymptomatic members harboring pathogenic FLCN mutations. Patient phenotypes are also indicated in red, blue and green colors in individual symbols, and asymptomatic carriers are denoted with a pink dot

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