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

Atypical presentation of Dowling-Degos disease with novel and recurrent mutations in POFUT1.

Clinical and experimental dermatology - 1 Dec 2018

Zhong W, Liu J, Wang H, Dou X, Yu B, Lin Z, Yang Y

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Exome Sequencing
Share to Fucosyltransferases
Share to Hyperpigmentation
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Pedigree

Share to Phenotype

Share to Skin Diseases, Genetic

Source

Identifiers

PMID: 29797344
DOI: 10.1111/ced.13649

Genes

POFUT1

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

Atypical presentation of Dowling-Degos disease with novel and recurrent mutations in POFUT1.PMID 29797344Read ↗

A novel mutation in POFUT1 gene associated with Dowling-Degos disease and hidradenitis suppurativa.Semantic proximity Read ↗

Mutations in POFUT1, Encoding Protein O-fucosyltransferase 1, Cause Generalized Dowling-Degos DiseaseSemantic proximity Read ↗

A case report of Dowling-Degos disease caused by POFUT1 exon deletion with possible coexistent CARD14 mutation-related psoriasis.Semantic proximity Read ↗

The clinical presentation of DFNA15/POU4F3.Semantic proximity Read ↗

Novel POFUT1 mutation associated with hidradenitis suppurativa–Dowling–Degos disease firm up a role for Notch signalling in the pathogenesis of this disorderSemantic proximity Read ↗

Expanding Phenotype of De Novo Mutations in GNAO1: Four New Cases and Review of Literature.Semantic proximity Read ↗

Analysis of POFUT1 gene mutation in a Chinese family with Dowling-Degos disease.Semantic proximity Read ↗

Clinical presentation of DFNB1.Semantic proximity Read ↗

Birt-Hogg-Dubé syndrome with novel FLCN gene mutations and different clinical presentations: Case series.Semantic proximity Read ↗

The clinical presentation of DFNB2.Semantic proximity Read ↗

A rare but distinct and unique phenotype of MOGAD.Semantic proximity Read ↗

How to recognize Cowden syndrome: A novel PTEN mutation description.Semantic proximity Read ↗

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