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  • Valind, Anders, et al. (author)
  • ZMIZ1-associated neurodevelopmental disorder and Hirschsprung disease
  • 2021
  • In: Journal of Pediatric Surgery Case Reports. - : Elsevier BV. - 2213-5766. ; 71
  • Journal article (peer-reviewed)abstract
    • 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.
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  • Result 1-1 of 1
Type of publication
journal article (1)
Type of content
peer-reviewed (1)
Author/Editor
Stenström, Pernilla (1)
Valind, Anders (1)
Jonson, Tord (1)
Samuelsson, Sofie (1)
Eklund, Erik A. (1)
University
Lund University (1)
Language
English (1)
Research subject (UKÄ/SCB)
Medical and Health Sciences (1)
Year
2021 (1)

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