Article
De novo variants in SUPT16H cause neurodevelopmental disorders associated with corpus callosum abnormalities.
Journal of medical genetics - 1 Jul 2020
Bina Roya, Matalon Dena, Fregeau Brieana, Tarsitano Jacqueline Joani, Aukrust Ingvild, Houge Gunnar, Bend Renee, Warren Hannah, Stevenson Roger E, Stuurman Kyra Eva, Barkovich A James, Sherr Elliott H
Abstract excerpt
INTRODUCTION: Whole-exome sequencing (WES) has identified de novo variants in chromatin remodelling genes in patients with neurodevelopmental disorders (NDD). We report on a novel genetic discovery in chromatin remodelling in patients with NDD who also have corpus callosum (CC) anomalies. OBJECTIVE: To discover novel genes linked to both CC anomalies and NDD. METHODS: Clinical WES was performed for evaluation of...
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