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

Mosaic GJB2 mutation A88V leading to diffuse neonatal hyperkeratosis and porokeratotic hamartoma.

Journal of the European Academy of Dermatology and Venereology : JEADV - 1 Jun 2023

Letertre O, Jullie M L, Reboul M P, Leclerc-Mercier S, Charbit F, Boralevi F, Labrèze C, Hadj-Rabia S, Morice-Picard F

Abstract excerpt

No abstract is available from the source.

Topics

Join the communities discussing this publication.

Connexins
Hamartoma
Infant, Newborn
Keratosis
Mutation

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 36734293
DOI: 10.1111/jdv.18935

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mosaic GJB2 mutation A88V leading to diffuse neonatal hyperkeratosis and porokeratotic hamartoma.PMID 36734293Read ↗

Erythrokeratodermia variabilis et progressiva with a rare GJB3 mutation.Semantic proximity Read ↗

The genetic and molecular basis of a connexin-linked skin disease.Semantic proximity Read ↗

Unusual cutaneous manifestations and congenital hearing loss in a patient with GJB2 (F142L) mutation.Semantic proximity Read ↗

Parental mosaic cutaneous-gonadal GJB2 mutation: From epidermal nevus to inherited ichthyosis-deafness syndrome.Semantic proximity Read ↗

Updating and identifying a novel mutation in the PMVK gene in classic porokeratosis of Mibelli.Semantic proximity Read ↗

KID syndrome in a Malaysian child with identification of novel heterozygous missense mutation GJB2 c.581T>A(p. 194Phe>Tyr).Semantic proximity Read ↗

Fatal hyperkeratosis syndrome in four siblings due to dolichol kinase deficiency.Semantic proximity Read ↗

Interrogation of Carboxy-Terminus Localized GJA1 Variants Associated with Erythrokeratodermia Variabilis et Progressiva.Semantic proximity Read ↗

Novel mutation in GJB4 gene (connexin 30.3) in a family with erythrokeratodermia variabilis.Semantic proximity Read ↗

Palmoplantar keratoderma with deafness phenotypic variability in a patient with an inherited GJB2 frameshift variant and novel missense variant.Semantic proximity Read ↗

Germline and somatic second-hit changes in porokeratosis: comprehensive variant spectrum and genotype-phenotype correlation analysis.Semantic proximity Read ↗

Phenotype in a patient with p.D50N mutation in GJB2 gene resemble both KID and Clouston syndromes.Semantic proximity Read ↗

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