Identification of a Novel NF1 Frameshift Variant in a Chinese Family with Neurofibromatosis Type 1
Neurofibromatosis type 1 (NF1) is a progressive neurocutaneous disorder in humans, mainly characterized by café-au-lait macules (CALMs) and neurofibromas. NF1 is caused by variants of the neurofibromin 1 gene (NF1), which encodes a Ras-GTPase-activating protein called neurofibromin. NF1 variants may...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Hindawi Limited
2019-01-01
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| Series: | BioMed Research International |
| Online Access: | http://dx.doi.org/10.1155/2019/2721357 |