Bone abnormality

NF1 frameshift mutation (c.6520_6523delGAGA) association with nervous system tumors and bone abnormalities in a Chinese patient with neurofibromatosis type 1

S. Y. Su, Zhou, X., Pang, X. M., Chen, C. Y., Li, S. H., Liu, J. L., Su, S. Y., Zhou, X., Pang, X. M., Chen, C. Y., Li, S. H., Liu, J. L., Su, S. Y., Zhou, X., Pang, X. M., Chen, C. Y., Li, S. H., and Liu, J. L., NF1 frameshift mutation (c.6520_6523delGAGA) association with nervous system tumors and bone abnormalities in a Chinese patient with neurofibromatosis type 1, vol. 15, p. -, 2016.

Neurofibromatosis type 1, also known as NF1 or von Recklinghausen’s disease, is a common neurocutaneous syndrome that presents with multiple café-au-lait patches, skinfold freckling, dermatofibromas, neurofibromas, and Lisch nodules. The mutations of the gene NF1, encoding the protein neurofibromin, have been identified as the cause of this disease. Here, we report a clinical and molecular study of a Chinese patient with multiple café-au-lait skin freckles, dermatofibroma, central and peripheral nervous system tumors, and bone abnormalities attributed to NF1.

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