Homozygosity for a frequent and weakly penetrant predisposing allele at the RET locus in sporadic Hirschsprung disease.
Pelet
A
A
de Pontual
L
L
Clément-Ziza
M
M
Salomon
R
R
Mugnier
C
C
Matsuda
F
F
Lathrop
M
M
Munnich
A
A
Feingold
J
J
Lyonnet
S
S
Abel
L
L
Amiel
J
J
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*
D051096:Proto-Oncogene Proteins c-ret; C099282:RET protein, human