ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
Sign Up to like & getrecommendations! Published in 2019 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2018.12.007
Abstract: ZMIZ1 is a coactivator of several transcription factors, including p53, the androgen receptor, and NOTCH1. Here, we report 19 subjects with intellectual disability and developmental delay carrying variants in ZMIZ1. The associated features include growth… read more here.
Keywords: cause syndromic; zmiz1 variants; variants cause; zmiz1 ... See more keywords
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
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder
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DOI: 10.1111/cge.14165
Abstract: Biallelic variants of the gene encoding for the zinc‐finger protein 142 (ZNF142) have recently been associated with intellectual disability (ID), speech impairment, seizures, and movement disorders in nine individuals from five families. In this study,… read more here.
Keywords: neurodevelopmental disorder; variants znf142; syndromic neurodevelopmental; biallelic variants ... See more keywords
Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of medical genetics"
DOI: 10.1136/jmg-2022-108566
Abstract: BACKGROUND MAPK-activated protein kinase 5 (MAPKAPK5) is an essential enzyme for diverse cellular processes. Dysregulation of the pathways regulated by MAPKAPK enzymes can lead to the development of variable diseases. Recently, homozygous loss-of-function variants in… read more here.
Keywords: neurodevelopmental disorder; mapkapk5; consolidating association; syndromic neurodevelopmental ... See more keywords
Further delineation of EBF3-related syndromic neurodevelopmental disorder in twelve Chinese patients
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2023.1091532
Abstract: Neurodevelopmental disorders (NDDs) have heterogeneity in both clinical characteristics and genetic factors. EBF3 is a recently discovered gene associated with a syndromic form of NDDs characterized by hypotonia, ataxia and facial features. In this study,… read more here.
Keywords: neurodevelopmental disorder; ebf3 related; related syndromic; syndromic neurodevelopmental ... See more keywords