MEN2 screening dilemmas in a family with a novel RET mutation in the MEN2 susceptibility region of the gene, a family history of Hirschsprung disease, and no family history of MEN2-related tumours.
Clowes
Virginia E
VE
Shaw-Smith
Charles
C
Simpson
Helen
H
Ball
Steve G
SG
Acerini
Carlo L
CL
D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006627:Hirschsprung Disease / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D018813:Multiple Endocrine Neoplasia Type 2a / Q000175:diagnosis* / Q000235:genetics*; D009154:Mutation; D051096:Proto-Oncogene Proteins c-ret / Q000235:genetics*
D051096:Proto-Oncogene Proteins c-ret; C099282:RET protein, human