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

Giant café-au-lait macule in neurofibromatosis 1: a type 2 segmental manifestation of neurofibromatosis 1?

Journal of the American Academy of Dermatology - 1 Mar 2008

Yang Chao-Chun, Happle Rudolf, Chao Sheau-Chiou, Yu-Yun Lee Julia, Chen WenChieh

Abstract excerpt

Type 2 segmental manifestation of autosomal dominant dermatoses refers to pronounced segmental lesions superimposed on the ordinary nonsegmental phenotype, indicating loss of heterozygosity occurring at an early stage of embryogenesis. We describe a 20-year-old Taiwanese woman with typical lesion...

Read the complete abstract on PubMed

Topics

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

Share to Cafe-au-Lait Spots
Share to Codon, Nonsense
Share to Exons

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Frameshift Mutation

Share to Gene Deletion

Share to Genes, Neurofibromatosis 1

Share to Mutation

Share to Neurofibromatosis 1

Source

Identifiers

PMID: 18280349
DOI: 10.1016/j.jaad.2007.03.013

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18280349-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Giant café-au-lait macule in neurofibromatosis 1: a type 2 segmental manifestation of neurofibromatosis 1?PMID 18280349Read ↗

A novel NF1 mutation in a Chinese patient with giant café-au-lait macule in neurofibromatosis type 1 associated with a malignant peripheral nerve sheath tumor and bone abnormality.Semantic proximity Read ↗

Case Report: Mosaicism of a novel nonsense variant in the neurofibromin gene underlies a mosaic generalized NF1 phenotypeSemantic proximity Read ↗

Clinical features of 58 Japanese patients with mosaic neurofibromatosis 1.Semantic proximity Read ↗

Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene.Semantic proximity Read ↗

Partial unilateral lentiginosis with ipsilateral Lisch nodules and axillary freckling.Semantic proximity Read ↗

Clinical Presentation and Novel Pathogenic Variants among 68 Chinese Neurofibromatosis 1 Children.Semantic proximity Read ↗

Molecular screening strategies for NF1-like syndromes with café-au-lait macules (Review).Semantic proximity Read ↗

Bilateral segmental neurofibromatosis: a case report and review.Semantic proximity Read ↗

[Unusual clinical manifestations of type 1 neurofibromatosis].Semantic proximity Read ↗

Deletion of the whole NF1 gene in a three-generation family with neurofibromatosis type 1.Semantic proximity Read ↗

Novel phenotypes of NF1 patients from unrelated Chinese families with tibial pseudarthrosis and anemia.Semantic proximity Read ↗

Neurofibromatosis type 1 (NF1) gene: Beyond café au lait spots and dermal neurofibromas.Semantic proximity Read ↗

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