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...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2021-08-01
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| Series: | Journal of Pediatric Surgery Case Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S221357662100110X |