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

Chanarin-Dorfman syndrome: clinical report and novel mutation in ABHD5 gene.

Journal of postgraduate medicine - 1 Jan 2000

Tamhankar P M, Iyer S, Sanghavi S, Khopkar U

Abstract excerpt

Chanarin-Dorfman syndrome (CDS) is a multisystem, autosomal recessive genetic disorder characterized by congenital non-bullous ichthyosiform erythroderma with accumulation of lipid droplets in granulocytes and basal keratinocytes. An 18-month-old female child presented with typical dermatological features of CDS. She was born as a collodion baby. Liver biopsy showed micronodular cirrhosis along with...

Read the complete abstract on PubMed

Topics

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

Share to 1-Acylglycerol-3-Phosphate O-Acyltransferase
Share to Biopsy
Share to Ichthyosiform Erythroderma, Congenital

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ichthyosis, Lamellar

Share to Lipid Metabolism, Inborn Errors

Share to Muscular Diseases

Source

Identifiers

PMID: 25121381
DOI: 10.4103/0022-3859.138826

Genes

ABHD5

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Chanarin-Dorfman syndrome: clinical report and novel mutation in ABHD5 gene.PMID 25121381Read ↗

A novel mutation of ABHD5 gene in a Chanarin Dorfman patient with unusual dermatological findings.Semantic proximity Read ↗

Identification of a homozygous mutation in the ABHD5 gene in two non-consanguineous Iranian-Azari Turkish families with Chanarin-Dorfman syndromeSemantic proximity Read ↗

Four cases of Chanarin-Dorfman syndrome presenting with different types of erythrokeratoderma.Semantic proximity Read ↗

Chanarin-Dorfman syndrome: a novel mutation in a Turkish girl.Semantic proximity Read ↗

Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 gene.Semantic proximity Read ↗

Molecular analysis of Chanarin-Dorfman syndrome (CDS) patients: Identification of novel mutations in the ABHD5 gene.Semantic proximity Read ↗

Acitretin-responsive ichthyosis in Chanarin-Dorfman syndrome with a novel mutation in the ABHD5/CGI-58 gene.Semantic proximity Read ↗

Erythrokeratoderma variabilis-like ichthyosis in Chanarin-Dorfman syndrome.Semantic proximity Read ↗

Two new mutations of the ABHD5 gene in a new adult case of Chanarin Dorfman syndrome: an uncommon lipid storage disease.Semantic proximity Read ↗

Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents.Semantic proximity Read ↗

An exceptional mutational event leading to Chanarin-Dorfman syndrome in a large consanguineous family.Semantic proximity Read ↗

Chanarin-Dorfman syndrome caused by a novel splice site mutation in ABHD5.Semantic proximity Read ↗

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