ZMIZ1-associated neurodevelopmental disorder and Hirschsprung disease
De novo mutations in the gene encoding transcription factor ZMIZ1, located on chromosome 10q22, were recently found to be associated with a novel neurodevelopmental syndrome [1]. In this case report we present a patient with developmental delay and Hirschsprung disease, who carries a de novo mutatio...
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| Main Authors: | , , , , |
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| Format: | Book |
| Published: |
Elsevier,
2021-08-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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Internet
Connect to this object online.3rd Floor Main Library
| Call Number: |
A1234.567 |
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| Copy 1 | Available |