Absence of Lisch nodules in sporadic neurofibromatosis type 1 may reflect somatic mosaicism.
Vabres
Pierre
P
Bonneau
Dominique
D
Larrègue
Marc
M
D006801:Humans; D007498:Iris / Q000473:pathology*; D015811:Iris Neoplasms / Q000235:genetics* / Q000473:pathology; D009030:Mosaicism; D009154:Mutation; D009456:Neurofibromatosis 1 / Q000235:genetics* / Q000473:pathology*; D012680:Sensitivity and Specificity; D012720:Severity of Illness Index