ptch1de novocase reportclinical presentationgynecologymutationuterus bicornisgeneticsScience ArticlesgeneticNovel mutation in PTCH1 gene in a patient with basal cell nevus syndrome and uterus bicornis
nystagmusophthalmologisthypertelorismUncategorizedcolobomaeyeepiretinal membranesmyelinated optic nerve fiber layersdiagnosisstrabismusclinicalScience Articlesocularcongenital cataractOphthalmologyOcular manifestations in Gorlin-Goltz syndrome
SUFUmutationgeneticsmeningiomaScience ArticlesgeneticframeshiftNovel SUFU Frameshift Variant Leading to Meningioma in Three Generations in a Family with Gorlin Syndrome
GenotyperetrospectivePhenotypegeneticsdermatologyclinicalScience Articlesbasal cell carcinomageneticLack of genotype-phenotype correlation in basal cell nevus syndrome: A Dutch multicenter retrospective cohort study