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Updated: Jan 28, 2026

Prediction and Validation of Gene Regulatory Elements Activated During Retinoic Acid Induced Embryonic Stem Cell Differentiation
Published on: June 21, 2016
Retinoic acid receptor beta variant-related colonic hypoganglionosis
Katharine J Foster1, Stephanie Q Zhang1, Stephen R Braddock2
1Department of Surgery, Division of Pediatrics Saint Louis University School of Medicine, Saint Louis, Missouri.
Abstract:
Retinoic acid receptor beta (RARB) variants are heavily linked to pathologies of neural crest cell migration. The purpose of this report is to present a 23-month-old male with the previously described R387C RARB gain-of-function variant whose gastrointestinal issues and long-term constipation lead to the discovery of colonic hypoganglionosis. This case further delineates the pattern of malformation associated with RARB variants. The findings are also consistent with the known etiology of aganglionic colon due to failed neural crest cell migration.
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