Associated Papers
Novel causative variants in Legius syndrome: SPRED1 Genotype spectrum expansion.
Chelleri C et al.
American Journal of Medical Genetics. Part A, 2024
Transposable element insertions in 1000 Swedish individuals.
Bilgrav Saether K et al.
Plos One, 2023
37506127 (PubMed )
Supplement: pone.0289346.s002.xlsx › Table_7
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders.
Giugliano T et al.
Genes, 2019
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
SPRED 1 mutations in a neurofibromatosis clinic.
Muram-Zborovski TM et al.
Journal of Child Neurology, 2010
Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.
Messiaen L et al.
Jama, 2009
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