Genotypes and Phenotypes of MEF2C Haploinsufficiency Syndrome: New Cases and Novel Point Mutations
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2021.664449
Abstract: Aim: MEF2C haploinsufficiency syndrome (MCHS) is a severe neurodevelopmental disorder. We describe the clinical phenotypes and genotypes of seven patients with MCHS to enhance the understanding of clinical manifestations and genetic alterations associated with MCHS.… read more here.
Keywords: patients exhibited; mef2c haploinsufficiency; haploinsufficiency syndrome; genotypes phenotypes ... See more keywords