Family NF-01, showing pedigree numbers by generation and person number (i.e., I:1 to III:1). NF1 affected individuals are denoted by a blackened symbol, unaffected by an unblackened symbol. The individual carrying isolated neurofibromas is denoted by a partially blackened symbol. The haplotypes from linkage analysis of chromosome 17 are shown. Individuals II:2 and III:1 carry the N335N silent mutation and the c.476delC deletion, while individual I:1 carries only the N335N variant.