Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

New mutations and an updated database for the patched-1 (PTCH1) gene.

Molecular genetics & genomic medicine - 1 May 2018

Reinders Marie G, van Hout Antonius F, Cosgun Betûl, Paulussen Aimée D, Leter Edward M, Steijlen Peter M, Mosterd Klara, van Geel Michel, Gille Johan J

Abstract excerpt

BACKGROUND: Basal cell nevus syndrome (BCNS) is an autosomal dominant disorder characterized by multiple basal cell carcinomas (BCCs), maxillary keratocysts, and cerebral calcifications. BCNS most commonly is caused by a germline mutation in the patched-1 (PTCH1) gene. PTCH1 mutations are also described in patients with holoprosencephaly. METHODS: We have established a locus-specific database for the PTCH1 gene...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Basal Cell Nevus Syndrome
Share to Databases, Genetic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Germ-Line Mutation

Share to Mutation

Share to Patched-1 Receptor

Share to Patched Receptors

Share to Receptors, Cell Surface

Source

Open in PubMed Open full text

Identifiers

PMID: 29575684
DOI: 10.1002/mgg3.380
PMCID: PMC6014442

Genes

PTCH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

New mutations and an updated database for the patched-1 (PTCH1) gene.PMID 29575684Read ↗

Novel PTCH1 Gene Mutation in Nevoid Basal Cell Carcinoma Syndrome.Semantic proximity Read ↗

PTCH mutations: distribution and analyses.Semantic proximity Read ↗

Whole‐exome sequencing of nevoid basal cell carcinoma syndrome families and review of Human Gene Mutation Database PTCH1 mutation dataSemantic proximity Read ↗

PTCH mutations and deletions in patients with typical nevoid basal cell carcinoma syndrome and in patients with a suspected genetic predisposition to basal cell carcinoma: a French study.Semantic proximity Read ↗

Novel mutation in PTCH1 gene in a patient with basal cell nevus syndrome and uterus bicornis.Semantic proximity Read ↗

De novo mutations of the Patched gene in nevoid basal cell carcinoma syndrome help to define the clinical phenotype.Semantic proximity Read ↗

A novel PTCH1 mutation in a patient of nevoid basal cell carcinoma syndrome.Semantic proximity Read ↗

Clinical and genetic findings in 103 individuals in Norway with basal cell naevus syndrome.Semantic proximity Read ↗

Molecular characterization of Italian nevoid basal cell carcinoma syndrome patients.Semantic proximity Read ↗

Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: identification of thirteen novel alleles.Semantic proximity Read ↗

Novel PTCH1 mutations in patients with keratocystic odontogenic tumors screened for nevoid basal cell carcinoma (NBCC) syndrome.Semantic proximity Read ↗

Germline PTCH1 mutations in Japanese basal cell nevus syndrome patients.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.