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Article

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

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jun 2017

Bhoj Elizabeth J, Yu Zhenming, Guan Qiaoning, Ahrens-Nicklas Rebecca, Cao Kajia, Luo Minjie, Tischler Tanya, Deardorff Matthew A, Zackai Elaine, Santani Avni B

Abstract excerpt

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 AND METHODS: The first 126 patients evaluated by clinical examination and the NGS RASopathy panel at the Children's...

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Identifiers

PMID: 27763634
DOI: 10.1038/gim.2016.169
PMCID: PMC6095193

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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