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Noonan Syndrome: Clinical Aspects and Molecular Pathogenesis

Noonan syndrome (NS) is a relatively common, clinically variable and genetically heterogeneous developmental disorder characterized by postnatally reduced growth, distinctive facial dysmorphism, cardiac defects and variable cognitive deficits. Other associated features include ectodermal and skeleta...

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Bibliographic Details
Main Authors: Tartaglia, M., Zampino, G., Gelb, B.D.
Format: Artigo
Language:Inglês
Published: S. Karger AG 2010
Subjects:
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC2858523/
https://ncbi.nlm.nih.gov/pubmed/20648242
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000276766
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