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

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 bee...

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Detalles Bibliográficos
Autores principales: Durdu, Murat, Missaglia, Sara, Moro, Laura, Tavian, Daniela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5975656/
https://www.ncbi.nlm.nih.gov/pubmed/29843625
http://dx.doi.org/10.1186/s12881-018-0610-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5975656/
https://www.ncbi.nlm.nih.gov/pubmed/29843625
http://dx.doi.org/10.1186/s12881-018-0610-0

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