Associated Papers
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders.
Giugliano T et al.
Genes, 2019
Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder.
Stewart DR et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2014
Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations.
Pros E et al.
Human Mutation, 2008
Detection of novel NF1 mutations and rapid mutation prescreening with Pyrosequencing.
Brinckmann A et al.
Electrophoresis, 2007
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