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

Whole-Exome-Sequencing Reveals Small Deletions in CASP14 in Patients with Autosomal Recessive Inherited Ichthyosis.

Acta dermato-venereologica - 4 Jan 2017

Kirchmeier Peter, Zimmer Andreas, Bouadjar Bakar, Rösler Bernd, Fischer Judith

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Algeria
Share to Caspases
Share to Consanguinity
Share to Exome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Frameshift Mutation

Share to Genes, Recessive

Share to Ichthyosis

Share to Sequence Deletion

Source

Identifiers

PMID: 27494380
DOI: 10.2340/00015555-2510

Genes

CASP14

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Whole-Exome-Sequencing Reveals Small Deletions in CASP14 in Patients with Autosomal Recessive Inherited Ichthyosis.PMID 27494380Read ↗

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

Whole Exome Sequencing Identifies Novel Pathogenic Variants in TGM1 and ALOX12B in Patients with Hereditary IchthyosisSemantic proximity Read ↗

Predictive phenotyping of inherited ichthyosis by next-generation DNA sequencing.Semantic proximity Read ↗

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

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

Whole exome sequencing identifies novel pathogenic variants in TGM1 and ALOX12B in patients with hereditary ichthyosis.Semantic proximity Read ↗

Genetic analysis of seven patients with inherited ichthyosis and Nagashima‑type palmoplantar keratoderma.Semantic proximity Read ↗

Expanding mutation landscape and phenotypic spectrum of autosomal recessive congenital ichthyosis.Semantic proximity Read ↗

Next-generation sequencing through multi-gene panel testing for diagnosis of hereditary ichthyosis in Chinese.Semantic proximity Read ↗

PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis.Semantic proximity Read ↗

A novel homozygous splice site variant in CERS3 causes autosomal recessive congenital ichthyosis.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.