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

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

Experimental dermatology - 1 Apr 2024

Noda Tatsuhiro, Takeichi Takuya, Tanahashi Kana, Ogawa Yasushi, Takeuchi So, Yoshikawa Takenori, Toriyama Erika, Ashida Miwa, Imakado Sumihisa, Tsuchihashi Hitoshi, Okamoto Takashi, Okuno Yusuke, Ogi Tomoo, Sugiura Kazumitsu, Kubo Akiharu, Muro Yoshinao, Suga Yasushi, Ishida-Yamamoto Akemi, Akiyama Masashi

Abstract excerpt

Autosomal recessive congenital ichthyoses (ARCI) is a genetically heterogeneous condition that can be caused by pathogenic variants in at least 12 genes, including ABCA12. ARCI mainly consists of congenital ichthyosiform erythroderma (CIE), lamellar ichthyosis (LI) and harlequin ichthyosis (HI). The objective was to determine previously unreported pathogenic variants in ABCA12 and to update genotype-phenotype...

Read the complete abstract on PubMed

Topics

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

Share to ATP-Binding Cassette Transporters
Share to DNA, Complementary

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

Share to Ichthyosis, Lamellar

Share to Mutation

Source

Identifiers

PMID: 38576105
DOI: 10.1111/exd.15072

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

Updated mutational spectrum and genotype-phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants.PMID 38576105Read ↗

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

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

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

Ichthyosis: case report in a Colombian man with genetic alterations in ABCA12 and HRNR genes.Semantic proximity Read ↗

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

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

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

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

Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis.Semantic proximity Read ↗

Harlequin ichthyosis due to novel splice site mutation in the ABCA12 gene: postnatal to prenatal diagnosis.Semantic proximity Read ↗

Harlequin ichthyosis: a novel compound mutation of ABCA12 with prenatal diagnosis.Semantic proximity Read ↗

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