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Familial neurofibromatosis type 1 associated with an overgrowth syndrome resembling Weaver syndrome.

The simultaneous occurrence of familial neurofibromatosis type 1 (NF1) and an overgrowth syndrome resembling Weaver syndrome was observed in two related cases (a mother and her son). NF1 was confirmed by molecular genetic analysis showing a large deletion at 17q11.2, encompassing the entire NF1 gene...

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Detalhes bibliográficos
Main Authors: van Asperen, C J, Overweg-Plandsoen, W C, Cnossen, M H, van Tijn, D A, Hennekam, R C
Formato: Artigo
Idioma:Inglês
Publicado em: 1998
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051283/
https://ncbi.nlm.nih.gov/pubmed/9598729
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