A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide with RAF1 S259Y neomutation

Noonan syndrome and related disorders are a group of clinically and genetically heterogeneous conditions caused by mutations in genes of the RAS/MAPK pathway. Noonan syndrome causes multiple congenital anomalies, which are frequently accompanied by hypertrophic cardiomyopathy (HCM). We report here a...

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Detalles Bibliográficos
Autores principales: Jaouadi, Hager, Chehida, Amel Ben, Kraoua, Lilia, Etchevers, Heather C., Argiro, Laurent, Kasdallah, Nadia, Blibech, Sonia, Delague, Valérie, Lévy, Nicolas, Tebib, Néji, Mrad, Ridha, Abdelhak, Sonia, Benkhalifa, Rym, Zaffran, Stéphane
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cambridge University Press 2019
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7045029/
https://www.ncbi.nlm.nih.gov/pubmed/31030682
http://dx.doi.org/10.1017/S0016672319000041

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7045029/
https://www.ncbi.nlm.nih.gov/pubmed/31030682
http://dx.doi.org/10.1017/S0016672319000041

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