Brain structural changes in patients with cardio-facio-cutaneous syndrome: effects of BRAF gene mutation and epilepsy on brain development. A case–control study by quantitative magnetic resonance imaging-Reference-Cited by-同舟云学术

Brain structural changes in patients with cardio-facio-cutaneous syndrome: effects of BRAF gene mutation and epilepsy on brain development. A case–control study by quantitative magnetic resonance imaging

Published:2021-07-26 Issue:1 Volume:64 Page:185-195
ISSN:0028-3940
Container-title:Neuroradiology
language:en
Short-container-title:Neuroradiology

Author:

Calandrelli Rosalinda,Pilato Fabio^ORCID,Panfili Marco,Battaglia Domenica,Gambardella Maria Luigia,Colosimo Cesare

Publisher

Springer Science and Business Media LLC

Subject

Cardiology and Cardiovascular Medicine,Neurology (clinical),Radiology, Nuclear Medicine and imaging

Link

https://link.springer.com/content/pdf/10.1007/s00234-021-02769-w.pdf

Reference45 articles.

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2. Niihori T, Aoki Y, Narumi Y et al (2006) Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nat Genet 38:294–296. https://doi.org/10.1038/ng1749

3. Cao H, Alrejaye N, Klein OD et al (2017) A review of craniofacial and dental findings of the RASopathies. Orthod Craniofac Res 20(Suppl 1):32–38. https://doi.org/10.1111/ocr.12144

4. Myers A, Bernstein JA, Brennan ML et al (2014) Perinatal features of the RASopathies: Noonan syndrome, cardiofaciocutaneous syndrome and Costello syndrome. Am J Med Genet A 164A:2814–2821. https://doi.org/10.1002/ajmg.a.36737

5. Grebe TA, Clericuzio C (2000) Neurologic and gastrointestinal dysfunction in cardio-facio-cutaneous syndrome: identification of a severe phenotype. Am J Med Genet 95:135–143

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