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, respec...
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| Main Authors: | , , , , |
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| Other Authors: | |
| Format: | Article |
| Published: |
2022
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| Subjects: | |
| Online Access: | https://repository.li.mahidol.ac.th/handle/123456789/76002 |
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| Institution: | Mahidol University |