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. 2017 Jul 12;2017:8751384. doi: 10.1155/2017/8751384

Table 1.

The clinic and genetic summary of these two families.

Family ID Phenotype in family members Mutation analysis
Clinically affected Skin eruptions Renal tumors/cysts Lung cysts/PSP Gene Exon Nucleotide Protein Mutation type
1 Proband Yes Yes Yes FLCN 14 c.1579_1580insA p.R527QfsX75 Insertion
1 Father No Yes Yes
1 Elder sister No Yes Yes
1 Sister No Yes Yes
1 Nephew Yes Yes No

2 Proband No Yes Yes FLCN 7 c.668delA p.N223Tfs19 Deletion
2 Mother No Yes Yes
2 Brother No No Yes