Article
Monogenic disorders associated with motor speech phenotypes in children and adolescents undergoing clinical exome sequencing.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2025
Mitchel Marissa W, Oetjens Matthew, Berry Alexander S F, Johns Alicia, Moreno-De-Luca Andrés, Torene Rebecca I, Strande Natasha T, DiStefano Marina T, Dyer Lindsay Havens, Brandt Tracy, Finucane Brenda M, Ledbetter David H, Retterer Kyle, Martin Christa L, Myers Scott M
Abstract excerpt
PURPOSE: Prior studies investigating the genetic architecture of pediatric motor speech disorders (MSDs) have been limited by small sample sizes and an exclusive focus on apraxia. We aimed to identify pathogenic genomic variants associated with MSDs in a large pediatric population referred for exome sequencing (ES). METHODS: We identified pediatric patients with MSDs who had clinical ES between 2012 and 2022. The...
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