NF1 Gene Mutations Represent the Major Molecular Event Underlying Neurofibromatosis-Noonan Syndrome

Neurofibromatosis type 1 (NF1) demonstrates phenotypic overlap with Noonan syndrome (NS) in some patients, which results in the so-called neurofibromatosis-Noonan syndrome (NFNS). From a genetic point of view, NFNS is a poorly understood condition, and controversy remains as to whether it represents...

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Autores principales: De Luca, Alessandro, Bottillo, Irene, Sarkozy, Anna, Carta, Claudio, Neri, Cinzia, Bellacchio, Emanuele, Schirinzi, Annalisa, Conti, Emanuela, Zampino, Giuseppe, Battaglia, Agatino, Majore, Silvia, Rinaldi, Maria M., Carella, Massimo, Marino, Bruno, Pizzuti, Antonio, Digilio, Maria Cristina, Tartaglia, Marco, Dallapiccola, Bruno
Formato: Artigo
Lenguaje:Inglês
Publicado: The American Society of Human Genetics 2005
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1285166/
https://ncbi.nlm.nih.gov/pubmed/16380919
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