Chanarin-Dorfman syndrome: a novel homozygous mutation in the ABHD5 gene

Subjects

Subjects :

Genetics
Male
Sequence analysis
business.industry
Homozygote
Lipid metabolism
Dermatology
Sequence Analysis, DNA
CHANARIN-DORFMAN SYNDROME
1-Acylglycerol-3-Phosphate O-Acyltransferase
Ichthyosiform Erythroderma, Congenital
Lipid Metabolism, Inborn Errors
Ichthyosiform erythroderma
Muscular Diseases
Mutation (genetic algorithm)
Mutation
Medicine
Humans
Exome
business
Skin pathology
Child
Gene
Skin

Details

ISSN :

13652230

Volume :

45

Issue :

2

Database :

OpenAIRE

Journal :

Clinical and experimental dermatologyReferences

Accession number :

edsair.doi.dedup.....102c1c9a65df18560dccf8ae0ba0de84