Associated Papers
Novel causative variants in Legius syndrome: SPRED1 Genotype spectrum expansion.
Chelleri C et al.
American Journal of Medical Genetics. Part A, 2024
The immune response-related genomic alterations in patients with malignant melanoma.
Li L et al.
Medicine, 2024
38669390 (PubMed )
Supplement: medi-103-e37966-s001.xlsx › Sheet1
Legius Syndrome and Inflammatory Bowel Disease: A Pediatric Case Report.
Paixao F et al.
Cureus, 2023
The absence that makes the difference: choroidal abnormalities in Legius syndrome.
Tucci A et al.
Journal of Human Genetics, 2017
Review and update of SPRED1 mutations causing Legius syndrome.
Brems H et al.
Human Mutation, 2012
Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype.
Brems H et al.
Nature Genetics, 2007
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