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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...
Tallennettuna:
| Julkaisussa: | BMC Med Genet |
|---|---|
| Päätekijät: | , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
BioMed Central
2018
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5975656/ https://ncbi.nlm.nih.gov/pubmed/29843625 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0610-0 |
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