A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes?

Samankaltaisia teoksia

• Clinical relationship between EDN-3 gene, EDNRB gene and Hirschsprung’s disease
  Tekijä: Duan, Xiang-Long, et al.
  Julkaistu: (2003)
• The heterozygous EDNRB mutation in a Chinese family with Waardenburg syndrome type I
  Tekijä: Huan-Huan Cheng, et al.
  Julkaistu: (2019-09-01)
• The heterozygous EDNRB mutation in a Chinese family with Waardenburg syndrome type I
  Tekijä: Cheng, Huan-Huan, et al.
  Julkaistu: (2019)
• Analysis of the RET, GDNF, EDN3, and EDNRB genes in patients with intestinal neuronal dysplasia and Hirschsprung disease
  Tekijä: Gath, R, et al.
  Julkaistu: (2001)
• Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse model for human Hirschsprung disease
  Tekijä: Herbarth, Beate, et al.
  Julkaistu: (1998)