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Last Updated: 01/07/2026
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Found 127 publications
Legius Syndrome: A Clinical Observation of a Father-Son Pair.
Journal: Dermatology practical & conceptual
Published: April 22, 2025
Legius Syndrome: the importance of molecular differential diagnosis with neurofibromatosis type 1.
Journal: Italian journal of dermatology and venereology
Published: April 02, 2025
Post-Axial Polydactyly and Postnatal Pulmonary Stenosis Observed With a SPRED1 Pathogenic Variant.
Journal: Prenatal diagnosis
Published: April 02, 2025
Genomic ascertainment to quantify prevalence and cancer risk in adults with pathogenic and likely pathogenic germline variants in RASopathy genes.
Journal: medRxiv : the preprint server for health sciences
Published: January 13, 2025
RASopathies. Part II: Cutaneous and extracutaneous manifestations.
Journal: Journal of the American Academy of Dermatology
Published: August 17, 2024
Clinical features and molecular genetics of patients with RASopathies: expanding the phenotype with rare genes and novel variants.
Journal: European journal of pediatrics
Published: August 07, 2024
Clinical and genetic analysis of three children with Legius syndrome due to variants of SPRED1 gene
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: August 03, 2024
Case report: MEK inhibitor as treatment for multi-lineage mosaic KRAS G12D-associated epidermal nevus syndrome in a pediatric patient.
Journal: Frontiers in neurology
Published: July 18, 2024
Legius syndrome mutations in the Ras-regulator SPRED1 abolish its membrane localization and potentially cause neurodegeneration.
Journal: The Journal of biological chemistry
Published: July 13, 2024
Significance of the Absence of Focal Areas of Signal Intensity on Brain Magnetic Resonance Imaging Examinations in Legius Syndrome.
Journal: Pediatric neurology
Published: May 24, 2024
RASopathies for Radiologists.
Journal: Radiographics : a review publication of the Radiological Society of North America, Inc
Published: April 11, 2024
Novel causative variants in Legius syndrome: SPRED1 Genotype spectrum expansion.
Journal: American journal of medical genetics. Part A
Published: March 20, 2024
Last Updated: 01/07/2026