Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with <it>NF1</it> splice-site mutations?
<p>Abstract</p> <p>Neurofibromatosis type 1 (NF1) is a complex neurocutaneous disorder with an increased susceptibility to develop both benign and malignant tumors but with a wide spectrum of inter and intrafamilial clinical variability. The establishment of genotype-phenotype asso...
Main Authors: | , , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2012-08-01
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Series: | Human Genomics |
Subjects: | |
Online Access: | http://www.humgenomics.com/content/6/1/12 |