De novo Splice Site Mutation of the CHD7 Gene in a Chinese Patient with Typical CHARGE Syndrome
Sign Up to like & getrecommendations! Published in 2022 at "ORL"
DOI: 10.1159/000520376
Abstract: Introduction: CHARGE syndrome (CS, OMIM 214800) is a rare genetic disease characterized by multiple congenital abnormalities, including coloboma, heart defect, atresia of the choanae, retardation of development, genital anomalies, and ear anomalies/deafness. The syndrome is… read more here.
Keywords: charge syndrome; variant; chd7 gene; splice site ... See more keywords
Discovery of Novel Variants on the CHD7 Gene: A Case Series of CHARGE Syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.852429
Abstract: Background: CHARGE syndrome (CS) is a single-gene genetic disorder with multiple organ malformations caused by a variant of the chromodomain helicase DNA-binding protein 7 (CHD7) gene on chromosome 8q12.1. In this study, we aimed to… read more here.
Keywords: charge syndrome; novel variants; variants chd7; chd7 gene ... See more keywords