Cutaneous and ophthalmic signs as a clue to early diagnosis of severe neurofibromatosis type 2: report of a novel mutation that predicts this poor prognosis.
Department of Dermatology, Hospital La Paz, Madrid, Spain.
B
B
Casado-Verrier
M
M
Feito-Rodriguez
S
S
Noval
V
V
Martínez-Glez
P
P
Lapunzina
R
R
De Lucas-Laguna
D002648:Child; D016368:Frameshift Mutation; D016515:Genes, Neurofibromatosis 2; D006801:Humans; D017496:Hypopigmentation / Q000473:pathology*; D008297:Male; D016518:Neurofibromatosis 2 / Q000235:genetics* / Q000473:pathology*; D011379:Prognosis; D012164:Retinal Diseases / Q000473:pathology*