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
Wicking C., Shanley S., Smyth I., et al. 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 (1997) 21-26
Complications of the naevoid basal cell carcinoma syndrome: results of a population based study
Evans D.G., Ladusans E.J., Rimmer S., et al. Complications of the naevoid basal cell carcinoma syndrome: results of a population based study. J Med Genet 30 (1993) 460-464
Is loss of heterozygosity at 9q22.3 (PTCH gene) and 19p13.3 (STK11 gene) involved in the pathogenesis of ovarian stromal tumors?
Tsuji T., Catasus L., and Prat J. Is loss of heterozygosity at 9q22.3 (PTCH gene) and 19p13.3 (STK11 gene) involved in the pathogenesis of ovarian stromal tumors?. Hum Pathol 36 (2005) 792-796