Association of a novel homozygous mutation in the HMGCS2 gene with an HMGCSD in an Iranian patient.
Masoud HeidariMorteza Soleyman-NejadAlireza IsazadehJavad ShapouriMohammad Hossein TaskhiriRoghayyeh AhangariAli Reza MohamadiMasoumeh EbrahimiHadi KarimiManzar BolhassaniZahra KarimiMansour HeidariPublished in: Molecular genetics & genomic medicine (2020)
To our best knowledge, this is the first report of HMGCSD in Iran which would expand our knowledge about the mutational spectrum of the HMGCS2 gene and the phenotype variations of the disease.