Legius Syndrome Latest Advances

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

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

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

Epilepsy in Legius syndrome: Coincidence or causation?

Journal: American journal of medical genetics. Part A

Published: November 03, 2023

The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic-Therapeutic Implications.

Journal: Genes

Published: October 09, 2023

Legius Syndrome and Inflammatory Bowel Disease: A Pediatric Case Report.

Journal: Cureus

Published: October 02, 2023

Novel mutation in SPRED1: a sporadic case of Legius syndrome in an infant.

Journal: European journal of dermatology : EJD

Published: July 11, 2023

Familial café-au-lait macules associated with in-frame deletion of NF1 p.Met992del mimicking Legius syndrome.

Journal: Congenital anomalies

Published: November 11, 2022

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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.

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.

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.

Epilepsy in Legius syndrome: Coincidence or causation?

Epilepsy in Legius syndrome: Coincidence or causation?

The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic-Therapeutic Implications.

The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic-Therapeutic Implications.

Legius Syndrome and Inflammatory Bowel Disease: A Pediatric Case Report.

Legius Syndrome and Inflammatory Bowel Disease: A Pediatric Case Report.

Novel mutation in SPRED1: a sporadic case of Legius syndrome in an infant.

Novel mutation in SPRED1: a sporadic case of Legius syndrome in an infant.

Familial café-au-lait macules associated with in-frame deletion of NF1 p.Met992del mimicking Legius syndrome.

Familial café-au-lait macules associated with in-frame deletion of NF1 p.Met992del mimicking Legius syndrome.