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Updated: Feb 27, 2026

Diagnosis of Hirschsprung's Disease by Immunostaining Rectal Suction Biopsies for Calretinin, S100 Protein and Protein Gene Product 9.5
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Potential association between ITPKC genetic variations and Hirschsprung disease

Jeong-Hyun Kim1, Soo-Min Jung2, Joong-Gon Shin3

  • 1Research Institute for Basic Science, Sogang University, Seoul, 04107, Republic of Korea.

Molecular Biology Reports
|July 1, 2017
PubMed
Summary

Genetic variants in inositol-trisphosphate 3-kinase C (ITPKC) may be associated with Hirschsprung disease (HSCR), a congenital disorder affecting enteric neuron development. Further research is needed to confirm these findings in larger patient cohorts.

Keywords:
HirschsprungITPKCIn silico analysisSingle nucleotide polymorphism (SNP)

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