Compound Heterozygote of Point Mutation and Chromosomal Microdeletion Involving OTUD6B Coinciding wi...
Compound Heterozygote of Point Mutation and Chromosomal Microdeletion Involving OTUD6B Coinciding with ZMIZ1 Variant in Syndromic Intellectual Disability
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Publisher
Switzerland: MDPI AG
Journal title
Language
English
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Publisher
Switzerland: MDPI AG
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Scope and Contents
Contents
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 recessive and autosomal dominant patterns, respectively. We report a 5-year-old girl with developm...
Alternative Titles
Full title
Compound Heterozygote of Point Mutation and Chromosomal Microdeletion Involving OTUD6B Coinciding with ZMIZ1 Variant in Syndromic Intellectual Disability
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8535745
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8535745
Other Identifiers
ISSN
2073-4425
E-ISSN
2073-4425
DOI
10.3390/genes12101583
