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Clinical variability of type 1 neurofibromatosis: is there a neurofibromatosis-Noonan syndrome?

Detailed clinical, ophthalmological, and molecular studies were performed on a multigeneration family in which there were many subjects with type 1 neurofibromatosis, a common autosomal dominant disorder. Affected family members displayed a wide range of clinical findings including, in two subjects,...

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Detalhes bibliográficos
Main Authors: Stern, H J, Saal, H M, Lee, J S, Fain, P R, Goldgar, D E, Rosenbaum, K N, Barker, D F
Formato: Artigo
Idioma:Inglês
Publicado em: 1992
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1015894/
https://ncbi.nlm.nih.gov/pubmed/1348094
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