Skip to search formSkip to main contentSkip to account menu

Basal Cell Nevus Syndrome

Known as: Gorlin Goltz Syndrome, Fifth Phacomatosis, gorlins syndrome 
An autosomal dominant genetic syndrome caused by abnormalities in the PTCH gene. It is characterized by multiple basal cell carcinomas at a young age… 
National Institutes of Health

Related topics

Related topics

35 relations

Narrower (1)

Aloi Tomasini Isaia syndrome
Autosomal dominant inheritanceBasal cell carcinomaBasal cell carcinoma, multipleBasal cell nevus

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2014
Review
2014
Sonic hedgehog signaling in Basal cell nevus syndrome.
The hedgehog (Hh) signaling pathway is considered to be a major signal transduction pathway during embryonic development, but it… 
Review
2002
Review
2002
Odontogenic Cysts, Odontogenic Tumors, Fibroosseous, and Giant Cell Lesions of the Jaws
Odontogenic cysts that can be problematic because of recurrence and/or aggressive growth include odontogenic keratocyst (OKC… 
Review
2001
Review
2001
The hedgehog pathway and basal cell carcinomas.
Developmental pathways first elucidated by genetic studies in the fruit fly, Drosophila melanogaster, are conserved in… 
Highly Cited
2000
Highly Cited
2000
Familial posterior fossa brain tumors of infancy secondary to germline mutation of the hSNF5 gene.
We have identified a family afflicted over multiple generations with posterior fossa tumors of infancy, including central nervous… 
Highly Cited
1997
Highly Cited
1997
Basal cell carcinomas in mice overexpressing sonic hedgehog.
Mutations in the tumor suppressor gene PATCHED (PTC) are found in human patients with the basal cell nevus syndrome, a disease… 
Highly Cited
1997
Highly Cited
1997
Medulloblastomas of the desmoplastic variant carry mutations of the human homologue of Drosophila patched.
Inactivating mutations in the PTCH gene, a human homologue of the Drosophila segment polarity gene patched, have been identified… 
Highly Cited
1997
Highly Cited
1997
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.
The human homologue of the Drosophila segment polarity gene patched is implicated in the development of nevoid basal cell… 
Review
1996
Review
1996
Is human patched the gatekeeper of common skin cancers?
Basal cell carcinoma (BCC) is the most common cancer in humans1. The majority of sporadic BCCs have allelic loss on chromosome… 
Highly Cited
1992
Highly Cited
1992
Developmental defects in gorlin syndrome related to a putative tumor suppressor gene on chromosome 9
Highly Cited
1992
Highly Cited
1992
Location of gene for Gorlin syndrome
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)