Phenotypic predictors and final diagnoses in patients referred for RASopathy testing by targeted next-generation sequencing

INTRODUCTION: RASopathies include disorders generally characterized by developmental delay, specific heart defects, short stature, cardiac hypertrophy, and facial dysmorphisms. Next-generation sequencing (NGS)-based panels have widespread acceptance as a diagnostic tool for RASopathies. MATERIALS AN...

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Publicado no:Genet Med
Main Authors: Bhoj, Elizabeth J., Yu, Zhenming, Guan, Qiaoning, Ahrens-Nicklas, Rebecca, Cao, Kajia, Luo, Minjie, Tischler, Tanya, Deardorff, Matthew A., Zackai, Elaine, Santani, Avni B.
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6095193/
https://ncbi.nlm.nih.gov/pubmed/27763634
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2016.169
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