Identification of a Novel <i>NF1</i> Frameshift Variant in a Chinese Family with Neurofibromatosis Type 1

<div>Pedigree and clinical photographs. (a) Affected individuals were indicated by solid squares (males) or circles (females). Normal individuals were indicated by open symbols. Arrow showed the proband. (b) Back of the proband (III1) covered in neurofibromas. (c) A large neurofibroma on the radial side of left hand’s thenar of the proband’s sister (III2). (d) Biopsy of the proband (III1) showed that spindle-shaped tumor cells with extended wavy nucleus were immersed in a collagen background.</div>

BioMed Research International

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Figure 1

Figure 1: Identification of a Novel <i>NF1</i> Frameshift Variant in a Chinese Family with Neurofibromatosis Type 1 

BioMed Research International

Identification of a Novel NF1 Frameshift Variant in a Chinese Family with Neurofibromatosis Type 1

Figure 1