Case Report: Chanarin-Dorfman Syndrome: A Novel Homozygous Mutation in ABHD5 Gene in a Chinese Case and Genotype-Phenotype Correlation Analysis

The Chanarin–Dorfman syndrome (CDS) is a rare, autosomal recessively inherited genetic disease, whch is associated with a decrease in the lipolysis activity in multiple tissue cells. The clinical phenotype involves multiple organs and systems, including liver, eyes, ears, skeletal muscle and central...

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Detalles Bibliográficos
Autores principales: Liang, Bo, Huang, He, Zhang, Jiaxiang, Chen, Gang, Kong, Xiangsheng, Zhu, Mengting, Wang, Peiguang, Tang, Lili
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8996135/
https://www.ncbi.nlm.nih.gov/pubmed/35419035
http://dx.doi.org/10.3389/fgene.2022.847321

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8996135/
https://www.ncbi.nlm.nih.gov/pubmed/35419035
http://dx.doi.org/10.3389/fgene.2022.847321

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