SMAD4 germinal mosaicism in a family with juvenile polyposis and hypertrophic osteoarthropathy.
Lamireau
Thierry
T
Unité de Gastroentérologie Pédiatrique, Hôpital Pellegrin, Bordeaux, France. thierry.lamireau@chu-bordeaux.fr
Olschwang
Sylviane
S
Rooryck
Caroline
C
Le Bail
Brigitte
B
Chateil
Jean-François
JF
Lacombe
Didier
D
D011125:Adenomatous Polyposis Coli / Q000235:genetics* / Q000601:surgery; D002675:Child, Preschool; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D009030:Mosaicism; D020125:Mutation, Missense; D010005:Osteoarthropathy, Secondary Hypertrophic / Q000235:genetics*; D010375:Pedigree; D051901:Smad4 Protein; D015534:Trans-Activators / Q000235:genetics*
D004268:DNA-Binding Proteins; C497796:SMAD4 protein, human; D051901:Smad4 Protein; D015534:Trans-Activators