Unexpected phenotype in a frameshift mutation of PTCH1
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.987
Abstract: Gorlin syndrome, also known as basal cell nevus syndrome (BCNS), is a rare autosomal dominant genetic condition, characterized by the presence of multiple basal cell carcinomas at a young age, odontogenic keratocysts, skeletal anomalies, macrocephaly,… read more here.
Keywords: phenotype; ptch1; unexpected phenotype; mutation ptch1 ... See more keywords
A new nonsense mutation of PTCH1 gene in mother and daughter with late-onset nevus basal cell carcinoma syndrome: Case report
Sign Up to like & getrecommendations! Published in 2024 at "Medicine"
DOI: 10.1097/md.0000000000040471
Abstract: Rationale: Nevoid basal cell carcinoma syndrome (NBCCS) is a rare clinical disease characterized by a disproportionate number of basal cell carcinoma to sun exposure and skin types. Patched 1 (PTCH1) gene is proposed to be… read more here.
Keywords: basal cell; ptch1 gene; mutation ptch1; cell carcinoma ... See more keywords