Male infant with Noonan syndrome with RAF-1 gene mutation who survived hypertrophic cardiomyopathy-induced fatal heart failure and uncontrollable arrhythmias

Noonan syndrome (NS) is a congenital disease with characteristic facial features as well as heart disease, short stature and thoracic abnormalities. More than eighty per cent of patients with NS show several cardiac disorders including pulmonary valvular stenosis, hypertrophic cardiomyopathy (HCM) a...

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Detalles Bibliográficos
Autores principales: Hagino, Mao, Ota, Chiharu, Onoki, Takehiko, Iwasawa, Shinya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2022
Materias:
Case Reports: Rare disease
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9528629/
https://www.ncbi.nlm.nih.gov/pubmed/36171012
http://dx.doi.org/10.1136/bcr-2022-250342

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