Article
[Neonatal atrial tachycardia: suggestive clinical sign of Costello syndrome].
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie - 1 Oct 2011
Laux D, Bajolle F, Maltret A, Bonnet D
Abstract excerpt
Costello syndrome is a rare association of symptoms caused by de novo germline mutations of the HRAS oncogene interfering in the RAS/mitogen-activated protein kinase (MAPK) signal transduction pathway. Mutations in this pathway are also responsible for Noonan syndrome and the related cardiofaciocutaneous syndrome (CFC) as well as LEOPARD syndrome. The 4 syndromes share phenotypic resemblances concerning patients'...
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