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Article

Chanarin-Dorfman syndrome: a novel mutation in a Turkish girl.

The Turkish journal of pediatrics - 1 Jan 2000

Ünlüsoy-Aksu Aysel, Sarı Sinan, Eğritaş-Gürkan Ödül, Dalgıç Buket

Abstract excerpt

Chanarin-Dorfman syndrome (CDS) is an autosomal recessive disorder, characterized by intracellular accumulation of lipid droplets in most tissues. It is very difficult to find a correlation between the phenotypic and genotypic features due to the occurrence of novel ABHD5 [ α/β hydrolase domain-containing protein-5; originally called CGI-58 (comparative gene identification-58)] mutations and the fact that there...

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Source

Identifiers

PMID: 26701953

Genes

ABHD5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

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Chanarin-Dorfman syndrome: a novel mutation in a Turkish girl.PMID 26701953Read ↗

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

Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions 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 ↗

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

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

Steatohepatitis and liver cirrhosis in Chanarin-Dorfman syndrome with a new ABDH5 mutation.Semantic proximity Read ↗

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

Early onset of Chanarin-Dorfman syndrome with severe liver involvement in a patient with a complex rearrangement of ABHD5 promoter.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 ↗

Chanarin-Dorfman syndrome: deficiency in CGI-58, a lipid droplet-bound coactivator of lipase.Semantic proximity Read ↗

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

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