Article
Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2, BBS7, and EVC2 Mutations.
Genes - 27 Dec 2022
Kantaputra Piranit, Dejkhamron Prapai, Sittiwangkul Rekwan, Katanyuwong Kamornwan, Ngamphiw Chumpol, Sonsuwan Nuntigar, Intachai Worrachet, Tongsima Sissades, Beales Philip L, Buranaphatthana Worakanya
Abstract excerpt
Objective: To investigate dental anomalies and the molecular etiology of a patient with Ellis−van Creveld syndrome and two patients with Bardet−Biedl syndrome, two examples of ciliopathies. Patients and Methods: Clinical examination, radiographic evaluation, whole exome sequencing, and Sanger direct sequencing were performed. Results: Patient 1 had Ellis−van Creveld syndrome with delayed dental development or...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.