ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
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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
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