RP has been clinically diagnosed in 32 members of a five-generation family of 111 persons, aged 3–82 years, from Hubei Province, People's Republic of China (Figure 1). The proband is a 58-year-old ...
(A) Hypothetical pedigree of Segmental neurofibromitosis type 1, and (below) molecular analysis showing somatic mosaicism. The three-generation pedigree illustrates the occurrence of a sporadic ...