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Results 1 - 6 of 6 for Hirschsprung disease 3
  1. EDNRB gene 
    ... Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease. Hum Mol Genet. 1996 Mar;5(3):355-7. doi: 10.1093/hmg/5.3. ... JP, Jouk PS, Goossens M. A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB ...
    https://medlineplus.gov/genetics/gene/ednrb - Genetics
  2. EDN3 gene 
    ... JP, Jouk PS, Goossens M. A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB ... heterozygous frameshift mutation in the endothelin-3 (EDN-3) gene in isolated Hirschsprung's disease. Pediatr Res. 1999 May;45(5 Pt 1): ...
    https://medlineplus.gov/genetics/gene/edn3 - Genetics
  3. RET gene 
    ... gene are the most common genetic cause of Hirschsprung disease, a disorder that causes severe constipation or blockage ... absence leads to the intestinal problems characteristic of Hirschsprung disease. More About This Health Condition More than 25 ...
    https://medlineplus.gov/genetics/gene/ret - Genetics
  4. SOX10 gene 
    ... II and type IV (also known as Waardenburg-Hirschsprung disease or Waardenburg-Shah syndrome). Both types of Waardenburg ... type IV also have an intestinal disorder called Hirschsprung disease that causes severe constipation or intestinal blockage. Most ...
    https://medlineplus.gov/genetics/gene/sox10 - Genetics
  5. L1CAM gene 
    ... buildup of fluid in the brain (hydrocephalus) and Hirschsprung disease. Hirschsprung disease is an intestinal disorder characterized by the absence ... the brain and intestine, leading to hydrocephalus and Hirschsprung disease. antigen identified by monoclonal antibody R1 CAML1 CD171 ...
    https://medlineplus.gov/genetics/gene/l1cam - Genetics
  6. PHOX2B gene 
    ... in the nerves that control the digestive tract (Hirschsprung disease), resulting in severe constipation, intestinal blockage, and enlargement ... with PHOX2B gene mutations have both neuroblastoma and Hirschsprung disease. PHOX2B gene variations affect the autonomic nervous system ...
    https://medlineplus.gov/genetics/gene/phox2b - Genetics