Variable expression of naevoid basal cell carcinoma syndrome in a family with a novel mutation in the PTCH1 gene.
J
J
Alonso-González
E
E
Gutiérrez-González
V
V
Fernández-Redondo
A
A
Vega-Gliemmo
J
J
Toribio
D000368:Aged; D001478:Basal Cell Nevus Syndrome / Q000235:genetics*; D002648:Child; D005091:Exons / Q000235:genetics; D005190:Family; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface / Q000235:genetics*; D012878:Skin Neoplasms / Q000235:genetics*
C000606236:PTCH1 protein, human; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface