Associated Papers
Genomic ascertainment to quantify prevalence and cancer risk in adults with pathogenic and likely pathogenic germline variants in RASopathy genes.
Kim J et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
39802765 (PubMed )
Supplement: media-1.xlsx › Supplementary_Table_2
Epilepsy in Legius syndrome: Coincidence or causation?
Medina Lemus A et al.
American Journal of Medical Genetics. Part A, 2024
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders.
Giugliano T et al.
Genes, 2019
RASopathy Gene Mutations in Melanoma.
Halaban R et al.
The Journal of Investigative Dermatology, 2016
Review and update of SPRED1 mutations causing Legius syndrome.
Brems H et al.
Human Mutation, 2012
Identification of five novel SPRED1 germline mutations in Legius syndrome.
Laycock-van Spyk S et al.
Clinical Genetics, 2011
Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.
Messiaen L et al.
Jama, 2009
Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype.
Brems H et al.
Nature Genetics, 2007
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