New mutation of the patched homologue 1 gene in a Chinese family with naevoid basal cell carcinoma syndrome

Gorlin, 1987, Nevoid basal-cell carcinoma syndrome, Medicine, 66, 98, 10.1097/00005792-198703000-00002 Farndon, 1992, Location of gene for Gorlin syndrome, Lancet, 339, 581, 10.1016/0140-6736(92)90868-4 Hahn, 1996, Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome, Cell, 85, 841, 10.1016/S0092-8674(00)81268-4 Johnson, 1996, Human homolog of patched, a candidate gene for the basal cell nevus syndrome, Science, 272, 1668, 10.1126/science.272.5268.1668 Stone, 1996, The tumour-suppressor gene patched encodes a candidate receptor for Sonic hedgehog, Nature, 384, 129, 10.1038/384129a0 Marigo, 1996, Biochemical evidence that patched is the Hedgehog receptor, Nature, 384, 176, 10.1038/384176a0 Wicking, 1997, Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident, Am J Hum Genet, 60, 21 Johnson, 1996, Human homolog of patched, a candidate gene for the basal cell nevus syndrome, Science, 272, 1668, 10.1126/science.272.5268.1668 Chen, 1996, Dual roles for patched in sequestering and transducing Hedgehog, Cell, 87, 553, 10.1016/S0092-8674(00)81374-4 Gorlin, 2004, Nevoid basal cell carcinoma (Gorlin) syndrome, Genet Med, 6, 530, 10.1097/01.GIM.0000144188.15902.C4 High, 2005, Basal cell nevus syndrome, Curr Opin Oncol, 17, 160, 10.1097/01.cco.0000154108.99236.ed Lindstrom, 2006, PTCH mutations: distribution and analyses, Hum Mutat, 27, 215, 10.1002/humu.20296 Shanley, 1994, Nevoid basal cell carcinoma syndrome: review of 118 affected individuals, Am J Med Genet, 15, 282, 10.1002/ajmg.1320500312 Chenevix-Trench, 1993, Further localization of the gene for nevoid basal cell carcinoma syndrome (NBCCS) in 15 Australasian families: linkage and loss of heterozygosity, Am J Hum Genet., 53, 760 Chung, 2003, Nevoid basal cell carcinoma syndrome – clinical manifestations and mutation analysis of a Taiwanese family, J Formos Med Assoc, 102, 793 Lam, 2002, Novel mutations in the PATCHED gene in basal cell nevus syndrome, Mol Genet Metab, 76, 57, 10.1016/S1096-7192(02)00021-5 Song, 2006, Germline mutations of the PTCH gene in families with odontogenic keratocysts and nevoid basal cell carcinoma syndrome, Tumour Biol, 27, 175, 10.1159/000093054