Article
Accuracy of Next-Generation Sequencing for Molecular Diagnosis in Patients With Infantile Nystagmus Syndrome.
JAMA ophthalmology - 1 Dec 2017
Rim John Hoon, Lee Seung-Tae, Gee Heon Yung, Lee Byung Joo, Choi Jong Rak, Park Hye Won, Han Sueng-Han, Han Jinu
Abstract excerpt
Importance: Infantile nystagmus syndrome (INS) is a group of disorders presenting with genetic and clinical heterogeneities that have challenged the genetic and clinical diagnoses of INS. Precise molecular diagnosis in early infancy may result in more accurate genetic counseling and improved patient management. Objective: To assess the accuracy of genomic data from next-generation sequencing (NGS) and phenotypic...
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