| dc.contributor.author | Chetty, Manogari | |
| dc.contributor.author | Roberts, Tina Sharon | |
| dc.contributor.author | Elmubarak, Mona | |
| dc.date.accessioned | 2020-11-10T11:49:47Z | |
| dc.date.available | 2020-11-10T11:49:47Z | |
| dc.date.issued | 2020 | |
| dc.identifier.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 | en_US |
| dc.identifier.issn | 1746-160X | |
| dc.identifier.uri | http://hdl.handle.net/10566/5409 | |
| dc.description.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. | en_US |
| dc.language.iso | en | en_US |
| dc.publisher | Springer Nature | en_US |
| dc.subject | Dental | en_US |
| dc.subject | Genetic | en_US |
| dc.subject | Malformation | en_US |
| dc.subject | Skeletal | en_US |
| dc.title | CHARGE syndrome: Genetic aspects and dental challenges, a review and case presentation | en_US |
| dc.type | Article | en_US |
