Ontology highlight
ABSTRACT:
SUBMITTER: Bhoj EJ
PROVIDER: S-EPMC6095193 | biostudies-literature | 2017 Jun
REPOSITORIES: biostudies-literature
Bhoj Elizabeth J EJ Yu Zhenming Z Guan Qiaoning Q Ahrens-Nicklas Rebecca R Cao Kajia K Luo Minjie M Tischler Tanya T Deardorff Matthew A MA Zackai Elaine E Santani Avni B AB
Genetics in medicine : official journal of the American College of Medical Genetics 20161020 6
<h4>Introduction</h4>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.<h4>Materials and methods</h4>The first 126 patients evaluated by clinical examination and the NGS RASopathy panel at the Children's Hospital of Philadelphia were enrolled. We calculated diagnosis rate, cor ...[more]