Legius Syndrome Latest Advances

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 I: Genetics and therapeutic considerations.

Journal: Journal of the American Academy of Dermatology

Published: December 03, 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

Legius Syndrome Latest Advances

Find the Latest Research About Legius Syndrome

Legius Syndrome: A Clinical Observation of a Father-Son Pair.

Legius Syndrome: A Clinical Observation of a Father-Son Pair.

Legius Syndrome: the importance of molecular differential diagnosis with neurofibromatosis type 1.

Legius Syndrome: the importance of molecular differential diagnosis with neurofibromatosis type 1.

Post-Axial Polydactyly and Postnatal Pulmonary Stenosis Observed With a SPRED1 Pathogenic Variant.

Post-Axial Polydactyly and Postnatal Pulmonary Stenosis Observed With a SPRED1 Pathogenic Variant.

Genomic ascertainment to quantify prevalence and cancer risk in adults with pathogenic and likely pathogenic germline variants in RASopathy genes.

Genomic ascertainment to quantify prevalence and cancer risk in adults with pathogenic and likely pathogenic germline variants in RASopathy genes.

RASopathies. Part I: Genetics and therapeutic considerations.

RASopathies. Part I: Genetics and therapeutic considerations.

Clinical features and molecular genetics of patients with RASopathies: expanding the phenotype with rare genes and novel variants.

Clinical features and molecular genetics of patients with RASopathies: expanding the phenotype with rare genes and novel variants.

Clinical and genetic analysis of three children with Legius syndrome due to variants of SPRED1 gene

Clinical and genetic analysis of three children with Legius syndrome due to variants of SPRED1 gene

Case report: MEK inhibitor as treatment for multi-lineage mosaic KRAS G12D-associated epidermal nevus syndrome in a pediatric patient.

Case report: MEK inhibitor as treatment for multi-lineage mosaic KRAS G12D-associated epidermal nevus syndrome in a pediatric patient.

Legius syndrome mutations in the Ras-regulator SPRED1 abolish its membrane localization and potentially cause neurodegeneration.

Legius syndrome mutations in the Ras-regulator SPRED1 abolish its membrane localization and potentially cause neurodegeneration.

Significance of the Absence of Focal Areas of Signal Intensity on Brain Magnetic Resonance Imaging Examinations in Legius Syndrome.

Significance of the Absence of Focal Areas of Signal Intensity on Brain Magnetic Resonance Imaging Examinations in Legius Syndrome.

RASopathies for Radiologists.

RASopathies for Radiologists.

Novel causative variants in Legius syndrome: SPRED1 Genotype spectrum expansion.

Novel causative variants in Legius syndrome: SPRED1 Genotype spectrum expansion.