RNF213 variant in a patient with Legius syndrome associated with moyamoya syndrome-Reference-Cited by-同舟云学术

RNF213 variant in a patient with Legius syndrome associated with moyamoya syndrome

Published:2021-05-03 Issue:6 Volume:9 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Romanisio Giulia¹,Chelleri Cristina¹^ORCID,Scala Marcello¹²^ORCID,Piccolo Gianluca¹^ORCID,Carlini Barbara³^ORCID,Gatti Laura⁴^ORCID,Capra Valeria³^ORCID,Zara Federico³^ORCID,Bersano Anna⁵^ORCID,Pavanello Marco⁶^ORCID,De Marco Patrizia³^ORCID,Diana Maria Cristina¹^ORCID

Affiliation:

1. Pediatric Neurology and Neuromuscular Diseases Unit IRCCS Giannina Gaslini Institute Genoa Italy

2. Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI) University of Genoa Genoa Italy

3. Medical Genetics Unit IRCCS Giannina Gaslini Institute Genoa Italy

4. Neurobiology Laboratory, Cerebrovascular Unit Fondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy

5. Cerebrovascular UnitFondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy

6. Pediatric Neurosurgery Unit IRCCS Giannina Gaslini Institute Genoa Italy

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1669

Reference13 articles.

1. Childhood Moyamoya: Looking Back to the Future

2. Moyamoya disease and syndromes: From genetics to clinical management;Guey S.;The Application of Clinical Genetics,2015

3. Endothelial Microparticle–Mediated Transfer of MicroRNA-126 Promotes Vascular Endothelial Cell Repair via SPRED1 and Is Abrogated in Glucose-Damaged Endothelial Microparticles

4. Discovery of asymptomatic moyamoya arteriopathy in pediatric syndromic populations: radiographic and clinical progression

5. Significant Association of the RNF213 p.R4810K Polymorphism with Quasi-Moyamoya Disease

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3. Epilepsy in Legius syndrome: Coincidence or causation?;American Journal of Medical Genetics Part A;2024-01-24

4. Novel mutation in SPRED1: a sporadic case of Legius syndrome in an infant;European Journal of Dermatology;2023-04

5. Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213;Cancers;2023-03-22