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ZMIZ1-associated ne...
ZMIZ1-associated neurodevelopmental disorder and Hirschsprung disease
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- Valind, Anders (author)
- Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine,Skåne University Hospital
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- Stenström, Pernilla (author)
- Skåne University Hospital
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- Samuelsson, Sofie (author)
- Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine,Region Skåne
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- Jonson, Tord (author)
- Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine,Region Skåne
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- Eklund, Erik A. (author)
- Skåne University Hospital
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(creator_code:org_t)
- Elsevier BV, 2021
- 2021
- English.
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In: Journal of Pediatric Surgery Case Reports. - : Elsevier BV. - 2213-5766. ; 71
- Related links:
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http://dx.doi.org/10... (free)
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https://doi.org/10.1...
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Abstract
Subject headings
Close
- 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 mutation in ZMIZ1. Utilizing public gene expression data from mouse we confirm that ZMIZ1 is indeed expressed in progenitors of the enteric nervous system (ENS) as well as in a subpopulation of ENS neurons in the adult mouse and based on this we then propose that ZMIZ1 is a novel putative risk gene for HD.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Neurovetenskaper (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Neurosciences (hsv//eng)
Keyword
- Enteric nervous system
- Hirschsprung disease
- ZMIZ1
Publication and Content Type
- art (subject category)
- ref (subject category)
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