WFRF:(Jonson Tord)
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- Valind, AndersLund 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 (author)
ZMIZ1-associated neurodevelopmental disorder and Hirschsprung disease
- Article/chapterEnglish2021
Publisher, publication year, extent ...
- Elsevier BV,2021
Numbers
- LIBRIS-ID:oai:lup.lub.lu.se:add66c1d-9b44-4065-bf5a-be61ebc6ef4f
- https://lup.lub.lu.se/record/add66c1d-9b44-4065-bf5a-be61ebc6ef4fURI
- https://doi.org/10.1016/j.epsc.2021.101889DOI
Supplementary language notes
- Language:English
- Summary in:English
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- SwePubSwePub
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Notes
- 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 and genre
- MEDICIN OCH HÄLSOVETENSKAP Medicinska och farmaceutiska grundvetenskaper Neurovetenskaper hsv//swe
- MEDICAL AND HEALTH SCIENCES Basic Medicine Neurosciences hsv//eng
- Enteric nervous system
- Hirschsprung disease
- ZMIZ1
Added entries (persons, corporate bodies, meetings, titles ...)
- Stenström, PernillaSkåne University Hospital(Swepub:lu)med-pes (author)
- Samuelsson, SofieLund 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(Swepub:lu)med-ss1 (author)
- Jonson, TordLund 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(Swepub:lu)kgen-tjo (author)
- Eklund, Erik A.Skåne University Hospital(Swepub:lu)er1318ek (author)
- Avdelningen för klinisk genetikInstitutionen för laboratoriemedicin (creator_code:org_t)
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- In:Journal of Pediatric Surgery Case Reports: Elsevier BV712213-5766
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