Identification through exome sequencing of the first PMM2-CDG individual of Mexican mestizo origin
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2020.100637
Abstract: Congenital Disorders of Glycosylation (CDG) are scarcely reported from Latin America. We here report on a Mexican mestizo with a multi-systemic syndrome including neurological involvement and a type I transferrin (Tf) isoelectric focusing (IEF) pattern.… read more here.
Keywords: cdg; first pmm2; exome sequencing; mexican mestizo ... See more keywords