Fig. 1
From: A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family
a The pedigree of the family with NHS gene mutations: clear and filled symbols represent unaffected and affected individuals, respectively. A dotted circle indicates an obligate X-linked carrier, whereas a “#” symbol indicates a fetus. Deceased individuals are indicated with a slash. Individuals with “*” were recruited and analyzed. “m” and “+” refer to mutant and normal alleles, respectively. b Photograph of the right eye of an affected male (III: 1), indicating a nuclear cataract. c Photograph of the teeth of an affected male (III: 1) presenting diastema (d). Radiographs of the right and left hands of an affected male (II: 5), indicating brachymetacarpia. e Sequence chromatogram of the Chinese family with the novel NHS gene mutation; the upper panel represents the nucleotide sequence of an unaffected male, the middle panel that of an affected male, and the lower panel that of a carrier female; an arrow indicates the site of mutation