...NF1) mutations and four couples at risk of transmitting compound heterozygous CFTR mutations. NIPD was performed between...
Neurofibromatosis type 1 (NF-1), a rare autosomal dominant disorder, arises from NF1 gene mutations affecting neurofibro...
...NF1 mutations with bizarre cells. NF1 and GNAQ mutations showed elongated and spindle cells with prominent dendrites in ...
...NF1 genes. In this study, we described rare clinical manifestations and detected three novel variants in NF1, BRAF, and ...
...NF1). Glomus tumors are uncommon benign tumors. The authors report the association between these two rare conditions, no...
...NF1 (type 1, peripheral NF, or von Recklinghausen syndrome); NF2 (type 2, central or bilateral acoustic NF). The mode if...
...NF1) is very rare. The aneurysm was successfully treated by endovascular trapping of the aneurysm and proximal vertebral...
...NF1). Interestingly, both NF1-positive patients were normotensive-one (c.3496G > A) with a non-secretory tumor and the o...
...NF1, with and without liver activity normalization.,NF1 patients presenting new symptoms or enlarging lesions were clini...
...NF1 co-mutated). The majority of this co-mutation group carried mutations in NF1 (n = 19 or 90%) with co-occurring mutat...
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