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Article

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

BMC medical genetics - 29 May 2018

Durdu Murat, Missaglia Sara, Moro Laura, Tavian Daniela

Abstract excerpt

BACKGROUND: Chanarin Dorfman Syndrome (CDS) is a rare autosomal recessive disorder characterized by ichthyosiform non-bullous erythroderma and variable involvement of the liver and the neuromuscular system. In CDS patients, the accumulation of neutral lipids inside cytoplasmic lipid droplets has been demonstrated in different tissues. To date, ninety families with this disease have been described worldwide; most...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 29843625
DOI: 10.1186/s12881-018-0610-0
PMCID: PMC5975656

Genes

ABHD5

Variants

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.

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