A novel dominant GJB2 (DFNA3) mutation in a Chinese family
Sign Up to like & getrecommendations! Published in 2017 at "Scientific Reports"
DOI: 10.1038/srep34425
Abstract: To decipher the phenotype and genotype of a Chinese family with autosomal dominant non-syndromic hearing loss (ADNSHL) and a novel dominant missense mutation in the GJB2 gene (DFNA3), mutation screening of GJB2 was performed on… read more here.
Keywords: chinese family; family; dfna3 mutation; novel dominant ... See more keywords
Novel dominant and recessive variants in human ROBO1 cause distinct neurodevelopmental defects through different mechanisms.
Sign Up to like & getrecommendations! Published in 2022 at "Human molecular genetics"
DOI: 10.1093/hmg/ddac070
Abstract: The Roundabout (Robo) receptors, located on growth cones of neurons, induce axon repulsion in response to the extracellular ligand Slit. The Robo family of proteins controls midline crossing of commissural neurons during development in flies.… read more here.
Keywords: human robo1; robo1; t2a gal4; variants human ... See more keywords
Novel Dominant KCNQ2 Exon 7 Partial In-Frame Duplication in a Complex Epileptic and Neurodevelopmental Delay Syndrome
Sign Up to like & getrecommendations! Published in 2020 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms21124447
Abstract: Complex neurodevelopmental syndromes frequently have an unknown etiology, in which genetic factors play a pathogenic role. This study utilizes whole-exome sequencing (WES) to examine four members of a family with a son presenting, since birth,… read more here.
Keywords: duplication; frame duplication; delay; novel dominant ... See more keywords