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

Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans.

PLoS genetics - 1 Jun 2013

Radner Franz P W, Marrakchi Slaheddine, Kirchmeier Peter, Kim Gwang-Jin, Ribierre Florence, Kamoun Bourane, Abid Leila, Leipoldt Michael, Turki Hamida, Schempp Werner, Heilig Roland, Lathrop Mark, Fischer Judith

Abstract excerpt

Autosomal recessive congenital ichthyosis (ARCI) is a rare genetic disorder of the skin characterized by abnormal desquamation over the whole body. In this study we report four patients from three consanguineous Tunisian families with skin, eye, heart, and skeletal anomalies, who harbor a homozygous contiguous gene deletion syndrome on chromosome 15q26.3. Genome-wide SNP-genotyping revealed a homozygous region in...

Read the complete abstract on PubMed

Topics

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

Share to ADAM Proteins
Share to ADAMTS Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ichthyosiform Erythroderma, Congenital

Share to Organ Specificity

Share to RNA, Long Noncoding

Share to RNA Splice Sites

Share to Sphingolipids

Share to Tunisia

Source

Open in PubMed Open full text

Identifiers

PMID: 23754960
DOI: 10.1371/journal.pgen.1003536
PMCID: PMC3675029

Genes

CERS3
ADAMTS17

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

Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans.PMID 23754960Read ↗

Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes.Semantic proximity Read ↗

Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length.Semantic proximity Read ↗

A novel homozygous splice site variant in CERS3 causes autosomal recessive congenital ichthyosis.Semantic proximity Read ↗

Expanding the clinical phenotype associated with NIPAL4 mutation: Study of a Tunisian consanguineous family with erythrokeratodermia variabilis-Like Autosomal Recessive Congenital Ichthyosis.Semantic proximity Read ↗

Phenotype-genotype correlation in a cohort of 15 patients with hereditary ichthyosis.Semantic proximity Read ↗

Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis.Semantic proximity Read ↗

Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype-phenotype correlation.Semantic proximity Read ↗

Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment.Semantic proximity Read ↗

Identification of Pathogenic Variants in CYP4F22, FLG, ALOX12B, and NIPAL4 in a Case Series of Inherited Ichthyosis.Semantic proximity Read ↗

Acylceramide is a key player in skin barrier function: insight into the molecular mechanisms of skin barrier formation and ichthyosis pathogenesisSemantic proximity Read ↗

Novel Homozygous Mutations in the Genes TGM1, SULT2B1, SPINK5 and FLG in Four Families Underlying Congenital Ichthyosis.Semantic proximity Read ↗

Recent advances in understanding inherited disorders of keratinizationSemantic proximity Read ↗

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