Association of a novel homozygous mutation in the HMGCS2 gene with an HMGCSD in an Iranian patient

ConclusionTo our best knowledge, this is the first report of HMGCSD in Iran which would expand our knowledge about the mutational spectrum of theHMGCS2 gene and the phenotype variations of the disease.

Source: Molecular Genetics & Genomic Medicine - September 22, 2020 Category: Genetics & Stem Cells Authors: Masoud Heidari, Morteza Soleyman ‐Nejad, Alireza Isazadeh, Javad Shapouri, Mohammad Hossein Taskhiri, Roghayyeh Ahangari, Ali Reza Mohamadi, Masoumeh Ebrahimi, Hadi Karimi, Manzar Bolhassani, Zahra Karimi, Mansour Heidari Tags: ORIGINAL ARTICLE Source Type: research