A child with Apert syndrome and Sturge-Weber syndrome: could fibronectin or the RAS/MAPK signaling pathway be the connection?
Author:
Publisher
Springer Science and Business Media LLC
Subject
Clinical Neurology,General Medicine,Pediatrics, Perinatology, and Child Health
Link
http://link.springer.com/article/10.1007/s00381-018-3758-1/fulltext.html
Reference17 articles.
1. Shirley MD, Tang H, Gallione CJ, Baugher JD, Frelin LP, Cohen B, North PE, Marchuk DA, Comi AM, Pevsner J (2013) Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. N Engl J Med 368:1971–1979. https://doi.org/10.1056/NEJMoa1213507
2. Ueda K, Yaoita M, Niihori T, Aoki Y, Okamoto N (2017) Craniosynostosis in patients with RASopathies: accumulating clinical evidence for expanding the phenotype. Am J Med Genet A 173:2346–2352. https://doi.org/10.1002/ajmg.a.38337
3. Addissie YA, Kotecha U, Hart RA, Martinez AF, Kruszka P, Muenke M (2015) Craniosynostosis and Noonan syndrome with KRAS mutations: expanding the phenotype with a case report and review of the literature. Am J Med Genet A 167A:2657–2663. https://doi.org/10.1002/ajmg.a.37259
4. Cohen MM, Kreiborg S, Lammer EJ, Cordero JF, Mastroiacovo P, Erickson JD, Roeper P, Martínez-Frías ML (1992) Birth prevalence study of the Apert syndrome. Am J Med Genet 42:655–659. https://doi.org/10.1002/ajmg.1320420505
5. Comi AM, Hunt P, Vawter MP, Pardo CA, Becker KG, Pevsner J (2003) Increased fibronectin expression in sturge-weber syndrome fibroblasts and brain tissue. Pediatr Res 53:762–769. https://doi.org/10.1203/01.PDR.0000058921.54071.19
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