Article
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.
American journal of human genetics - 1 Dec 2005
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
Abstract excerpt
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 a variable manifestation of either NF1 or NS or is a distinct clinical entity. To answer this question, we screened...
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