Compound Heterozygote of Point Mutation and Chromosomal Microdeletion Involving OTUD6B Coinciding with ZMIZ1 Variant in Syndromic Intellectual Disability
Sign Up to like & getrecommendations! Published in 2021 at "Genes"
DOI: 10.3390/genes12101583
Abstract: The OTUD6B and ZMIZ1 genes were recently identified as causes of syndromic intellectual disability (ID) with shared phenotypes of facial dysmorphism, distal limb anomalies, and seizure disorders. OTUD6B- and ZMIZ1-related ID are inherited in autosomal… read more here.
Keywords: intellectual disability; point mutation; zmiz1 variant; zmiz1 ... See more keywords
Novel Mutation in LARP7 in Two Iranian Consanguineous Families with Syndromic Intellectual Disability and Facial Dysmorphism.
Sign Up to like & getrecommendations! Published in 2020 at "Archives of Iranian medicine"
DOI: 10.34172/aim.2020.112
Abstract: BACKGROUND Recently, we have reported mutations in LARP7 gene, leading to neurodevelopmental disorders (NDDs), the most frequent cause of disability in children with a broad phenotype spectrum and diverse genetic landscape. METHODS Here, we present… read more here.
Keywords: intellectual disability; disability; consanguineous families; two iranian ... See more keywords