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

Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis.

Genes - 15 Mar 2023

Hotz Alrun, Kopp Julia, Bourrat Emmanuelle, Oji Vinzenz, Süßmuth Kira, Komlosi Katalin, Bouadjar Bakar, Tantcheva-Poór Iliana, Hellström Pigg Maritta, Betz Regina C, Giehl Kathrin, Schedel Fiona, Weibel Lisa, Schulz Solveig, Stölzl Dora V, Tadini Gianluca, Demiral Emine, Berggard Karin, Zimmer Andreas D, Alter Svenja, Fischer Judith

Abstract excerpt

Autosomal recessive congenital ichthyosis (ARCI) is a non-syndromic congenital disorder of cornification characterized by abnormal scaling of the skin. The three major phenotypes are lamellar ichthyosis, congenital ichthyosiform erythroderma, and harlequin ichthyosis. ARCI is caused by biallelic mutations in ABCA12, ALOX12B, ALOXE3, CERS3, CYP4F22, NIPAL4, PNPLA1, SDR9C7, SULT2B1, and TGM1. The most severe form...

Read the complete abstract on PubMed

Topics

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

Share to Acyltransferases
Share to ATP-Binding Cassette Transporters

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

Share to Genes, Recessive

Share to Genetic Association Studies

Share to Ichthyosiform Erythroderma, Congenital

Share to Ichthyosis, Lamellar

Share to Mutation

Share to Phospholipases

Source

Open in PubMed Open full text

Identifiers

PMID: 36980989
DOI: 10.3390/genes14030717
PMCID: PMC10048568

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

Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis.PMID 36980989Read ↗

ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts.Semantic proximity Read ↗

Updated mutational spectrum and genotype-phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants.Semantic proximity Read ↗

Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis.Semantic proximity Read ↗

Compound heterozygous ABCA12 variants identified in a Chinese patient with congenital ichthyosiform erythroderma: Advancing genotype-phenotype correlations and literature review.Semantic proximity Read ↗

Molecular epidemiology of non-syndromic autosomal recessive congenital ichthyosis in a Middle-Eastern population.Semantic proximity Read ↗

Non-bullous congentital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12.Semantic proximity Read ↗

Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.Semantic proximity Read ↗

Genotype of autosomal recessive congenital ichthyosis from a tertiary care center in India.Semantic proximity Read ↗

Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients.Semantic proximity Read ↗

Genotype–phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosisSemantic proximity Read ↗

Cross-Sectional Study on Autosomal Recessive Congenital Ichthyoses: Association of Genotype with Disease Severity, Phenotypic, and Ultrastructural Features in 74 Italian Patients.Semantic proximity Read ↗

Clinical and molecular characteristics of autosomal recessive congenital ichthyosis in Thailand.Semantic proximity Read ↗

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