Gorlin goltz syndrome : A case report and literature review with PTCH1 gene sequencing
Sign Up to like & getrecommendations! Published in 2023 at "Archives of Plastic Surgery"
DOI: 10.1055/a-2096-3536
Abstract: Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is an autosomal dominant disease characterized by multisystemic developmental defects caused by pathogenic variants such as patched-1 (PTCH1) gene variants and/or SUFU gene variants.… read more here.
Keywords: gorlin goltz; ptch1 gene; goltz syndrome; confirmation ... See more keywords
Potential hot spot for de novo mutations in PTCH1 gene in Gorlin syndrome patients: a case report of twins from Croatia
Sign Up to like & getrecommendations! Published in 2018 at "Croatian Medical Journal"
DOI: 10.3325/cmj.2018.59.20
Abstract: We describe a case of twins with sporadic Gorlin syndrome. Both twins had common Gorlin syndrome features including calcification of the falx cerebri, multiple jaw keratocysts, and multiple basal cell carcinomas, but with different expressivity.… read more here.
Keywords: mutations ptch1; gorlin syndrome; hot spot; ptch1 gene ... See more keywords