A novel NF1 frame-shift mutation c.703_704delTA in a Chinese pedigree with neurofibromatosis type 1.
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DOI: 10.18240/ijo.2018.09.22
Abstract: We analyzed the clinical features and NF1 gene mutation in a Chinese pedigree of neurofibromatosis type 1 (NF1). Three members of this family were NF1 patients presenting with different clinical phenotypes and the others were… read more here.
Keywords: mutation; neurofibromatosis type; chinese pedigree; novel nf1 ... See more keywords