Noonan syndrome associated with hypoplastic left heart syndrome

Noonan syndrome is an inherited disorder caused by alterations in the RAS-MAPK pathway. There have been several identified genotype–phenotype associations made with respect to congenital cardiac lesions and Noonan syndrome variants, but limited data exist regarding single ventricle disease in this p...

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Veröffentlicht in:	Cardiology in the young 2023-04, Vol.33 (4), p.652-654
Hauptverfasser:	Lawrence, Kendall M., Burstein, Danielle S., Ahrens-Nicklas, Rebecca, Gaynor, J. William, Nuri, Muhammad A.
Format:	Artikel
Sprache:	eng
Schlagworte:	Autopsies Cardiac Anatomy and Pathology Genetic Association Studies Genotype & phenotype Genotypes Growth factors Heart surgery Humans Hypoplastic Left Heart Syndrome - complications Hypoplastic Left Heart Syndrome - genetics MAP kinase Medical prognosis Mutation Neuroblastoma Noonan Syndrome - complications Noonan Syndrome - diagnosis Noonan Syndrome - genetics Noonan's syndrome Patients Phenotype Phenotypes Ventricle
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