Moyamoya syndrome in a child with Legius syndrome: Introducing a cerebral vasculopathy to the SPRED1 phenotype?-Reference-Cited by-同舟云学术

Moyamoya syndrome in a child with Legius syndrome: Introducing a cerebral vasculopathy to the SPRED1 phenotype?

Published:2020-10-20 Issue:1 Volume:185 Page:223-227
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Pabst Lisa¹,Carroll Jennifer²^ORCID,Lo Warren³,Truxal Kristen V.⁴

Affiliation:

1. Division of Neurology, Department of Pediatrics Nationwide Children’s Hospital Columbus Ohio US

2. Division of Genetic and Genomic Medicine, Department of Internal Medicine Nationwide Children’s Hospital and The Ohio State University Columbus Ohio US

3. Division of Neurology, Depts. Of Pediatrics and Neurology The Ohio State University and Nationwide Children’s Hospital Columbus Ohio US

4. Division of Genetic and Genomic Medicine, Department of Pediatrics Nationwide Children’s Hospital and The Ohio State University Columbus Ohio US

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61921

Reference13 articles.

1. Cerebrovascular dysplasia in neurofibromatosis type 1

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

3. Etiology and pathogenesis of Moyamoya Disease: An update on disease prevalence

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

5. Moyamoya disease in two patients with Noonan-like syndrome with loose anagen hair

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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

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