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EnglishChanarin Dorfman syndrome (CDS) is a very rare neutral lipid metabolism disorder with multisystem involvement. It is inherited as an autosomal recessive manner. It is characterized with congenital ichthyosiform erythroderma and involvement of liver, muscle, and central nervous system. Demonstration of lipid vacuoles in neutrophils from peripheral blood smears in patients with ichthyosiform erythroderma leads to the diagnosis. We report a novel ABHD5 truncating variant in a twenty nine month old female child, who presented with icthyosiform erythroderma.
Gupta, N., Gothwal, S., Satpathy, A. K., Missaglia, S., Tavian, D., Das, P., Timila, D., Kabra, M., Chanarin Dorfman Syndrome: A Case Report with Novel Nonsense Mutation, <<GENE>>, 2016; 2016 (january): 359-362. [doi:10.1016/j.gene.2015.09.004] [http://hdl.handle.net/10807/76195]
| Autori: | |
| Titolo: | Chanarin Dorfman Syndrome: A Case Report with Novel Nonsense Mutation |
| Digital Object Identifier (DOI): | http://dx.doi.org/10.1016/j.gene.2015.09.004 |
| Data di pubblicazione: | 2016 |
| Abstract: | Chanarin Dorfman syndrome (CDS) is a very rare neutral lipid metabolism disorder with multisystem involvement. It is inherited as an autosomal recessive manner. It is characterized with congenital ichthyosiform erythroderma and involvement of liver, muscle, and central nervous system. Demonstration of lipid vacuoles in neutrophils from peripheral blood smears in patients with ichthyosiform erythroderma leads to the diagnosis. We report a novel ABHD5 truncating variant in a twenty nine month old female child, who presented with icthyosiform erythroderma. |
| Lingua: | Inglese |
| Rivista: | |
| Citazione: | Gupta, N., Gothwal, S., Satpathy, A. K., Missaglia, S., Tavian, D., Das, P., Timila, D., Kabra, M., Chanarin Dorfman Syndrome: A Case Report with Novel Nonsense Mutation, <<GENE>>, 2016; 2016 (january): 359-362. [doi:10.1016/j.gene.2015.09.004] [http://hdl.handle.net/10807/76195] |
| Appare nelle tipologie: | Articolo in rivista, Nota a sentenza |
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