Truncating mutations (nonsense, frameshift insertions/deletions) are the most frequent germline events and cause the most severe disease, whilst single and multiple exon deletions are common and are usually associated with milder NF2. A strategy for detection of the latter is vital for a sensitive ...
7 Therefore, considering that JXG is the most frequent tumor in NF1, it is probable that the coexistence of CaLS and JXGs in small children should not be considered a casual finding but rather one highly indicative of the disease. Their presence has also been associated with a greater risk ...
4 ⅐ No. 3 review Cardiovascular disease in neurofibromatosis 1: Report of the NF1 Cardiovascular Task Force J. M. Friedman, MD, PhD1, Jack Arbiser, MD3, Jonathan A. Epstein, MD4, David H. Gutmann, MD-PhD5, Stephen J. Huot, MD, PhD6, Angela E. Lin, MD7, Bruce McManus, MD...
Somatic mosaicism with cells not harbouring theNF1microdeletion in question is likely to have a disproportionately large impact upon the manifestations of disease (Rasmussen et al.1998; Tinschert et al.2000; Maertens et al.2007; Kehrer-Sawatzki and Cooper2008; Roehl et al.2012; Kehrer-Sawatzki ...
They arise sporadically or as part of the autosomal inherited disorder neurofibromatosis type 1 (NF1, von Recklinghausen disease; MIM# 162200). NF1 is caused by dominant loss-of-function mutations of the tumor-suppressor gene Neurofibromin 1 (NF1; MIM# 613113), which encodes neurofibromin, ...
They arise sporadically or as part of the autosomal inherited disorder neuro-fibromatosis type 1 (NF1, von Recklinghausen disease; MIM# 162200). NF1 is caused by dominant loss-of-func-tion mutations of the tumor-suppressor gene Neurofibromin 1 (NF1; MIM# 613113), which encodes neurofibro...