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

Liver cirrhosis in an infant with Chanarin-Dorfman syndrome caused by a novel splice-site mutation in ABHD5.

Acta paediatrica (Oslo, Norway : 1992) - 1 Oct 2010

Cakir M, Bruno C, Cansu A, Cobanoglu U, Erduran E

Abstract excerpt

UNLABELLED: We described a Turkish girl with Chanarin-Dorfman syndrome who developed liver cirrhosis in the early infancy. She had all the clinical features of Chanarin-Dorfman syndrome such as ichthyosis, Jordan's anomaly, fatty liver disease and mild ectropion. The diagnosis was confirmed 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 Consanguinity
Share to Fatty Liver

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ichthyosiform Erythroderma, Congenital

Share to Lipid Metabolism, Inborn Errors

Share to Liver Cirrhosis

Share to Muscular Diseases

Share to RNA Splice Sites

Source

Identifiers

PMID: 20528790
DOI: 10.1111/j.1651-2227.2010.01869.x

Genes

ABHD5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20528790-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Liver cirrhosis in an infant with Chanarin-Dorfman syndrome caused by a novel splice-site mutation in ABHD5.PMID 20528790Read ↗

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

Novel nonsense mutation of ABHD5 in Dorfman-Chanarin syndrome with unusual findings: a challenge for genotype-phenotype correlation.Semantic proximity Read ↗

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

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

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

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

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

Severe steatohepatitis in a patient with a rare neutral lipid storage disorder due to ABHD5 mutation.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 ↗

Clinical and genetic characterization of Chanarin-Dorfman syndrome.Semantic proximity Read ↗

Dorfman-Chanarin syndrome in Egypt.Semantic proximity Read ↗

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