Article
Deep phenotyping and whole-exome sequencing improved the diagnostic yield for nuclear pedigrees with neurodevelopmental disorders.
Molecular genetics & genomic medicine - 1 May 2022
Wang Qingqing, Tang Xia, Yang Ke, Huo Xiaodong, Zhang Hui, Ding Keyue, Liao Shixiu
Abstract excerpt
BACKGROUND: Neurodevelopmental disorders, a group of early-onset neurological disorders with significant clinical and genetic heterogeneity, remain a diagnostic challenge for clinical genetic evaluation. Therefore, we assessed the diagnostic yield by combining standard phenotypes and whole-exome sequencing in families with these disorders that were "not yet diagnosed" by the traditional testing methods. METHODS:...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.