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

Epidermal nevus syndrome with the mutation of PTCH1 gene and cerebral infarction: a case report and review of the literature.

Journal of medical case reports - 28 Sept 2022

Deng QingQing, Li Yan, Liu ZhanLi, Zhou JieLin, Weng LingWei

Abstract excerpt

BACKGROUND: Epidermal nevus syndrome is a group of congenital neuroectodermal and/or mesodermal disorders characterized by the epidermal nevi in common association with cerebral, eye, skeletal, cardiovascular, and renal abnormalities. Epidermal nevus syndrome is a rare syndrome, and epidermal nevus syndrome with the mutation of PTCH1 gene and cerebral infarction is even rarer and has not been reported to the best...

Read the complete abstract on PubMed

Topics

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

Share to Cerebral Infarction
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Skin Neoplasms

Source

Open in PubMed Open full text

Identifiers

PMID: 36171624
DOI: 10.1186/s13256-022-03547-9
PMCID: PMC9520847

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

Epidermal nevus syndrome with the mutation of PTCH1 gene and cerebral infarction: a case report and review of the literature.PMID 36171624Read ↗

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

Mutations of PTCH1 gene in two pedigrees with bifid rib-basal cell nevus-jaw cyst syndrome.Semantic proximity Read ↗

5-aminolevulinic acid photodynamic therapy and excision surgery for nevoid basal cell carcinoma syndrome with multiple basal cell carcinomas and PTCH1 mutation.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 ↗

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

Pediatric 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 ↗

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 ↗

[Basal cell nevus syndrome with Duchenne muscular dystrophy: a case report].Semantic proximity Read ↗

[Phakomatosis pigmentovascularis cesioflammea: a case report].Semantic proximity Read ↗

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

PTCH mutations: distribution and analyses.Semantic proximity Read ↗

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