Nalaganje...
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...
Shranjeno v:
| izdano v: | BMC Med Genet |
|---|---|
| Main Authors: | , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
BioMed Central
2018
|
| Teme: | |
| Online dostop: | 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 |
| Oznake: |
Označite
Brez oznak, prvi označite!
|