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

Phenotype and genotype correlation of inherited epidermolysis bullosa in Indonesia.

The Australasian journal of dermatology - 1 Nov 2023

Arline Diana Inne, Tan Ene-Choo, Gondokaryono Srie Prihianti, Koh Mark Jean-Aan, Dwiyana Reiva Farah, Rahardja July Iriani, Yogya Yuri, Rafi'ee Khadijah, Suwarsa Oki

Abstract excerpt

BACKGROUND: Inherited epidermolysis bullosa (EB) is a group of genodermatoses with considerable clinical and genetic heterogeneity. Clinical diagnosis of the EB subtypes is frequently imprecise and requires confirmation with genetic testing. There is still limited study using genetic testing to identify EB subtypes in Indonesia. This study aims to identify the pathogenic variants of inherited EB patients at the...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Collagen Type VII

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Epidermolysis Bullosa

Share to Epidermolysis Bullosa Dystrophica

Share to Genotype

Share to Indonesia

Share to Phenotype

Source

Identifiers

PMID: 37452458
DOI: 10.1111/ajd.14121

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

Phenotype and genotype correlation of inherited epidermolysis bullosa in Indonesia.PMID 37452458Read ↗

Novel pathogenic variants in an Indian cohort with epidermolysis bullosa: Expanding the genotypic spectrum.Semantic proximity Read ↗

Genotype and phenotype correlations in 441 patients with epidermolysis bullosa from China.Semantic proximity Read ↗

Clinical and allelic heterogeneity in dystrophic epidermolysis bullosa- lessons from an Indian cohort.Semantic proximity Read ↗

Epidermolysis bullosa pruriginosa: a systematic review exploring genotype-phenotype correlation.Semantic proximity Read ↗

Genetic Profile of Epidermolysis Bullosa Cases in King Abdulaziz Medical City, Riyadh, Saudi ArabiaSemantic proximity Read ↗

Epidermolysis Bullosa: Two rare case reports of COL7A1 and EBS-GEN SEV KRT14 variants with review of literature.Semantic proximity Read ↗

Epidemiology of inherited epidermolysis bullosa in Romania and genotype-phenotype correlations in patients with dystrophic epidermolysis bullosa.Semantic proximity Read ↗

The international dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations.Semantic proximity Read ↗

Genotype-phenotype correlations on epidermolysis bullosa with congenital absence of skin: A comprehensive review.Semantic proximity Read ↗

Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.Semantic proximity Read ↗

Genotype-Phenotype Correlations of Dystrophic Epidermolysis Bullosa in India: Experience from a Tertiary Care Centre.Semantic proximity Read ↗

Genotype-Phenotype Correlations in Recessive Dystrophic Epidermolysis Bullosa: A Systematic Review.Semantic proximity Read ↗

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