Bi-allelic nonsense mutations inABHD5 underlie a mild phenotype of Dorfman-Chanarin syndrome
Author:
Publisher
Elsevier BV
Subject
Dermatology,Molecular Biology,Biochemistry
Reference10 articles.
1. Ichthyosiform dermatosis with systemic lipidosis;Dorfman;Arch. Dermatol.,1974
2. Neutral-lipid storage disease: a new disorder of lipid metabolism;Chanarin;Br. Med. J.,1975
3. Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome;Lefevre;Am. J. Hum. Genet.,2001
4. Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory;Takeichi;Br. J. Dermatol.,2015
5. Two new mutations of the ABHD5 gene in a new adult case of Chanarin Dorfman syndrome: an uncommon lipid storage disease;Schleinitz;Arch. Dermatol.,2005
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1. Chanarin-Dorfman syndrome treatment with acitretin;JAAD Case Reports;2022-06
2. Case Report: Chanarin-Dorfman Syndrome: A Novel Homozygous Mutation in ABHD5 Gene in a Chinese Case and Genotype-Phenotype Correlation Analysis;Frontiers in Genetics;2022-03-28
3. Chanarin–Dorfman syndrome: clinical/genetic features and natural history in six Pakistani patients;Egyptian Journal of Medical Human Genetics;2021-08-25
4. Maternal Isodisomy of Chromosome 3 Combined with a De Novo Mutation in the ABHD5 Gene Causes Autosomal Recessive Chanarin-Dorfman Syndrome;Genes;2021-07-29
5. Dorfman-Chanarin Syndrome: A Rare Cause of Metabolic Associated Fatty Liver Disease Related to Homozygosity of the Nonsense Mutation c.934C>T (p.R312*);GE - Portuguese Journal of Gastroenterology;2021-07-07
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