Ontology highlight
ABSTRACT:
SUBMITTER: Ockeloen CW
PROVIDER: S-EPMC5018235 | biostudies-literature | 2016 Nov
REPOSITORIES: biostudies-literature
Genetics in medicine : official journal of the American College of Medical Genetics 20160310 11
<h4>Purpose</h4>We aimed to identify a novel genetic cause of tooth agenesis (TA) and/or orofacial clefting (OFC) by combining whole-exome sequencing (WES) and targeted resequencing in a large cohort of TA and OFC patients.<h4>Methods</h4>WES was performed in two unrelated patients: one with severe TA and OFC and another with severe TA only. After deleterious mutations were identified in a gene encoding low-density lipoprotein receptor-related protein 6 (LRP6), all its exons were resequenced wit ...[more]