Discover Community Create You

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

Nevoid basal cell carcinoma syndrome with cleft lip and palate associated with the novel PTCH gene mutations.

Journal of human genetics - 1 Jul 2009

Sasaki Ryo, Saito Kayoko, Watanabe Yorikatsu, Takayama Yoshinaga, Fujii Katsunori, Agawa Kaori, Miyashita Toshiyuki, Ando Tomohiro, Akizuki Tanetaka

Abstract excerpt

Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disorder characterized by developmental abnormalities and a predisposition to cancers. Two unrelated patients, 21- and 16-year-old males, with cleft lip and palate and multiple jaw cysts, were diagnosed according to clinical criteria. To confirm a diagnosis of NBCCS, we undertook a molecular genetic analysis of the PTCH gene. Their PTCH...

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 Cleft Lip

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cleft Palate

Share to DNA Mutational Analysis

Share to Patched-1 Receptor

Share to Patched Receptors

Share to Receptors, Cell Surface

Share to Young Adult

Source

Identifiers

PMID: 19521425
DOI: 10.1038/jhg.2009.51

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Nevoid basal cell carcinoma syndrome with cleft lip and palate associated with the novel PTCH gene mutations.PMID 19521425Read ↗

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

[Nevoid basal cell carcinoma syndrome with corpus callosum agenesis, PTCH1 mutation and absence of basal cell carcinoma].Semantic proximity Read ↗

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

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

A novel mutation of the PTCH1 gene activates the Shh/Gli signaling pathway in a Chinese family with nevoid basal cell carcinoma syndrome.Semantic proximity Read ↗

A new mutation of PTCH gene in a Chinese family with nevoid basal cell carcinoma syndrome.Semantic proximity Read ↗

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

Germline mutations of the PTCH gene in Japanese patients with nevoid basal cell carcinoma syndrome.Semantic proximity Read ↗

PTCH mutations: distribution and analyses.Semantic proximity Read ↗

Nevoid basal cell carcinoma syndrome caused by splicing mutations in the PTCH1 gene.Semantic proximity Read ↗

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

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

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