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Clinical and Molecular Aspects of an Informative Family with Neurofibromatosis Type 1 and Noonan Phenotype

NF-Noonan syndrome (NFNS) has been described as a unique phenotype, combining manifestations of neurofibromatosis type 1 (NF1) and Noonan syndromes, which are separate syndromes. Potential etiologies of NF-Noonan syndrome include a discrete syndrome of distinct etiology, co-segregation of two mutate...

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Detalhes bibliográficos
Main Authors: Stevenson, David A., Viskochil, David H., Rope, Alan F., Carey, John C.
Formato: Artigo
Idioma:Inglês
Publicado em: 2006
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3243644/
https://ncbi.nlm.nih.gov/pubmed/16542390
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1399-0004.2006.00576.x
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