Article
[Type 2 neurofibromatosis: intergenerational differences in genetic and clinical expression].
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie - 1 Nov 2014
Drouet A, Le Moigne F, Salamé D, Quesnel L, Motolese C, des Portes V, Guilloton L, Pinson S
Abstract excerpt
INTRODUCTION: Neurofibromatosis type 2 (NF2) is a rare dominantly inherited disease. Its clinical presentation can be completely different in children and adults and early diagnosis is often difficult. The NF2 gene molecular analysis can help for diagnosis, but its result can be negative in case of NF2 mosaicism. OBSERVATIONS: We report the case of a 43-year-old man who had developed a severe phenotype with...
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