Homozygosity for a frequent and weakly penetrant predisposing allele at the RET locus in sporadic Hirschsprung disease

Ítems similars

• Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locus
  per: de Pontual, L, et al.
  Publicat: (2006)
• Exclusion of RET and Pax 3 loci in Waardenburg-Hirschsprung disease.
  per: Attié, T, et al.
  Publicat: (1995)
• Various mechanisms cause RET-mediated signaling defects in Hirschsprung's disease.
  per: Pelet, A, et al.
  Publicat: (1998)
• Mutations of the RET-GDNF signaling pathway in Ondine's curse.
  per: Amiel, J, et al.
  Publicat: (1998)
• Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease
  per: de Pontual, Loïc, et al.
  Publicat: (2009)