title: Homozygosity for a frequent and weakly penetrant predisposing allele at the RET locus in sporadic Hirschsprung disease.
authors.forename: A
authors.initials: A
authors.lastname: Pelet
authors.forename: L
authors.initials: L
authors.lastname: de Pontual
authors.forename: M
authors.initials: M
authors.lastname: Clément-Ziza
authors.forename: R
authors.initials: R
authors.lastname: Salomon
authors.forename: C
authors.initials: C
authors.lastname: Mugnier
authors.forename: F
authors.initials: F
authors.lastname: Matsuda
authors.forename: M
authors.initials: M
authors.lastname: Lathrop
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.forename: J
authors.initials: J
authors.lastname: Feingold
authors.forename: S
authors.initials: S
authors.lastname: Lyonnet
authors.forename: L
authors.initials: L
authors.lastname: Abel
authors.forename: J
authors.initials: J
authors.lastname: Amiel
mesh_terms: D000483:Alleles; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods; D006239:Haplotypes; D006627:Hirschsprung Disease / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D019683:Penetrance; D020641:Polymorphism, Single Nucleotide; D051096:Proto-Oncogene Proteins c-ret / Q000235:genetics*
chemical_list: D051096:Proto-Oncogene Proteins c-ret; C099282:RET protein, human