CHARGE syndrome: Genetic aspects and dental challenges, a review and case presentation

Thumbnail Image

Files

s13005-020-00224-4.pdf (5.85 MB)

Date

2020

Authors

Journal Title

Journal ISSN

Volume Title

Publisher

Springer Nature

Abstract

CHARGE syndrome (CS) is a rare genetic condition (OMIM #214800). The condition has a variable phenotypic expression. Historically, the diagnosis of CHARGE syndrome was based on the presence of specific clinical criteria. The genetic aetiology of CS has since been elucidated and attributed to pathogenic variation in the CHD7 gene (OMIM 608892) at chromosome locus 8q12.

Description

Keywords

Dental, Genetic, Malformation, Skeletal

Citation

Chetty, M. et al . (2020). CHARGE syndrome: Genetic aspects and dental challenges, a review and case presentation. Head and Face Medicine,16(1),10. Doi: https://doi.org/10.1186/s13005-020-00224-4

URI

http://hdl.handle.net/10566/5409

Collections

Research Articles