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

Genotype of autosomal recessive congenital ichthyosis from a tertiary care center in India.

Pediatric dermatology - 1 May 2022

Chiramel Minu Jose, Mathew Lydia, Athirayath Rekha, Chapla Aaron, Sathishkumar Dharshini, Mani Thenmozhi, Danda Sumita, George Renu

Abstract excerpt

BACKGROUND: Autosomal recessive congenital ichthyosis (ARCI) refers to non-syndromic ichthyosis caused by mutations in one of the 13 identified genes. There are limited data on the genotype of ARCI and its phenotypic correlation from India. OBJECTIVES: The aim of this study was to characterize the genotype of ARCI among patients from the Indian subcontinent. METHODS: Twenty-eight patients clinically diagnosed as...

Read the complete abstract on PubMed

Topics

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

Share to Acyltransferases
Share to Fatty Acid Transport Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Recessive

Share to Ichthyosiform Erythroderma, Congenital

Share to Ichthyosis

Share to Ichthyosis, Lamellar

Share to Lipase

Share to Tertiary Care Centers

Source

Identifiers

PMID: 35412663
DOI: 10.1111/pde.14944

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

Genotype of autosomal recessive congenital ichthyosis from a tertiary care center in India.PMID 35412663Read ↗

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

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

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

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 ↗

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

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

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

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

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

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

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

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