Research Laboratories said: “NF1 is a relatively rare disease, but can lead to life-threatening complications in those affected by it. This underscores the importance of this collaborative effort between Merck & Co. and our partner AstraZeneca to help patients impacted by this debilitating genetic...
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 ...
“NF1-PN is a complex, devastating disease that affects not only individual patients, but entire families. Treatment advances are crucial to achieving better outcomes for patients and this FDA approval offers hope for NF patients and t...
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 ...
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 ...
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...