EFNB2 haploinsufficiency causes a syndromic neurodevelopmental disorder
Sign Up to like & getrecommendations! Published in 2018 at "Clinical Genetics"
DOI: 10.1111/cge.13234
Abstract: Ephrin B2, one of the ligand of the EphB receptors, is involved in a complex signaling pathway regulating the development of the nervous system, neuronal migration, erythropoiesis and vasculogenesis. We report a patient with a… read more here.
Keywords: efnb2 haploinsufficiency; haploinsufficiency; efnb2; haploinsufficiency causes ... See more keywords
Kdm6b Haploinsufficiency Causes ASD/ADHD-Like Behavioral Deficits in Mice
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Behavioral Neuroscience"
DOI: 10.3389/fnbeh.2022.905783
Abstract: Autism spectrum disorder (ASD) is a neurodevelopmental disease that has intellectual disability (ID) and attention-deficit/hyperactivity disorder (ADHD) as its common comorbidities. Recent genetic and clinical studies report that KDM6B, a gene encoding a histone H3… read more here.
Keywords: behavioral deficits; asd adhd; like behavioral; adhd like ... See more keywords