Compound Heterozygote of Point Mutation and Chromosomal Microdeletion Involving OTUD6B Coinciding with ZMIZ1 Variant in Syndromic Intellectual Disability

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, respe...

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Detalles Bibliográficos
Autores principales: Phetthong, Tim, Khongkrapan, Arthaporn, Jinawath, Natini, Seo, Go-Hun, Wattanasirichaigoon, Duangrurdee
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8535745/
https://www.ncbi.nlm.nih.gov/pubmed/34680978
http://dx.doi.org/10.3390/genes12101583

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8535745/
https://www.ncbi.nlm.nih.gov/pubmed/34680978
http://dx.doi.org/10.3390/genes12101583

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