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

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

European journal of medical genetics - 1 Dec 2021

Nilay Mayank, Saxena Deepti, Mandal Kausik, Moirangthem Amita, Phadke Shubha R

Abstract excerpt

BACKGROUND: Epidermolysis bullosa (EB) is a genodermatosis characterized by skin fragility and blisters with variable severity. Patients with Dystrophic EB (DEB) or Junctional EB (JEB) mainly present to clinic due to greater functional impairment. Pathogenic sequence variations in COL7A1 are implicated in DEB. OBJECTIVE: We have tried to decipher the molecular spectrum and genotype phenotype correlation of 21...

Read the complete abstract on PubMed

Topics

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

Share to Asian People
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Cohort Studies

Share to Epidermolysis Bullosa

Share to Genetic Association Studies

Share to Infant

Share to Infant, Newborn

Source

Identifiers

PMID: 34597860
DOI: 10.1016/j.ejmg.2021.104345

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel pathogenic variants in an Indian cohort with epidermolysis bullosa: Expanding the genotypic spectrum.PMID 34597860Read ↗

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

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

Phenotype and genotype correlation of inherited epidermolysis bullosa in Indonesia.Semantic proximity Read ↗

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

Epidermolysis Bullosa in Chinese Patients: Genetic Analysis and Mutation Landscape in 57 Pedigrees and Sporadic Cases.Semantic proximity Read ↗

Whole-Exome Sequencing Identified a Novel Mutation in an Iranian Patient with 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 and phenotype correlations in 441 patients with epidermolysis bullosa from China.Semantic proximity Read ↗

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

Novel and recurrent COL7A1 mutation in a Polish population.Semantic proximity Read ↗

An incompletely penetrant novel mutation in COL7A1 causes epidermolysis bullosa pruriginosa and dominant dystrophic epidermolysis bullosa phenotypes in an extended kindred.Semantic proximity Read ↗

Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages.Semantic proximity Read ↗

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