Clinical and genetic characterization of chanarin-dorfman syndrome patients: first report of large deletions in the ABHD5 gene

BACKGROUND: Chanarin-Dorfman syndrome (CDS) is a rare autosomal recessive disorder characterized by nonbullous congenital ichthyosiform erythroderma (NCIE) and an intracellular accumulation of triacylglycerol (TG) droplets in most tissues. The clinical phenotype involves multiple organs and systems,...

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Autors principals: Redaelli, Chiara, Coleman, Rosalind A, Moro, Laura, Dacou-Voutetakis, Catherine, Elsayed, Solaf Mohamed, Prati, Daniele, Colli, Agostino, Mela, Donatella, Colombo, Roberto, Tavian, Daniela
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2010
Matèries:
Research
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3019207/
https://ncbi.nlm.nih.gov/pubmed/21122093
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-5-33
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