Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2, BBS7, and EVC2 Mutations

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...

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Detalles Bibliográficos
Autores principales: Kantaputra, Piranit, Dejkhamron, Prapai, Sittiwangkul, Rekwan, Katanyuwong, Kamornwan, Ngamphiw, Chumpol, Sonsuwan, Nuntigar, Intachai, Worrachet, Tongsima, Sissades, Beales, Philip L., Buranaphatthana, Worakanya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9858533/
https://www.ncbi.nlm.nih.gov/pubmed/36672825
http://dx.doi.org/10.3390/genes14010084

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9858533/
https://www.ncbi.nlm.nih.gov/pubmed/36672825
http://dx.doi.org/10.3390/genes14010084

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