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
Clin Exp Dermatol
.
2014 Jun;39(4):557-9.
doi: 10.1111/ced.12306.
Epub 2014 Apr 8.
Authors
B Casado-Verrier
1
,
M Feito-Rodriguez
,
S Noval
,
V Martínez-Glez
,
P Lapunzina
,
R De Lucas-Laguna
Affiliation
1
Department of Dermatology, Hospital La Paz, Madrid, Spain.
PMID:
24708049
DOI:
10.1111/ced.12306
No abstract available
Publication types
Case Reports
MeSH terms
Child
Frameshift Mutation*
Genes, Neurofibromatosis 2*
Humans
Hypopigmentation / pathology*
Male
Neurofibromatosis 2 / genetics*
Neurofibromatosis 2 / pathology*
Prognosis
Retinal Diseases / pathology*