Aim: To identify a gene linking microphthalmia with cyst with early onset medu lloblastoma. Methods: Mutation analysis of the PTCH gene. Results: A mutation in exon 10 of the PTCH genewas identified, confirming a diag...
We identified seven novel germline mutations of the PTCH gene in eight unrelat ed Japanese patients with nevoid basal cell carcinoma syndrome (NBCCS). In order to ensure genetic diagnosis, all 23 coding exons of the P...