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Oculo–facio–cardio–dental syndrome with craniosynostosis, temporal hypertrichosis, and deafness
| Content Provider | Semantic Scholar |
|---|---|
| Author | O'Byrne, James J. Laffan, Eoghan E. Murray, Dylan John Reardon, William |
| Copyright Year | 2017 |
| Abstract | &NA; We report the case of a 7‐month‐old girl with atypical oculo–facio–cardio–dental syndrome (OFCD). A novel de novo pathogenic mutation in the BCL6 interacting co‐repressor gene (BCOR) (c.4540C>T; p.Arg1514*), was identified on the X chromosome. This case expands the phenotype of OFCD as it is the first report of a case presenting with craniosynostois, temporal hypertrichosis, supraorbital grooving, and underdevelopment of the midface. |
| Starting Page | 1301 |
| Ending Page | 1304 |
| Page Count | 4 |
| File Format | PDF HTM / HTML |
| DOI | 10.1002/ajmg.a.38128 |
| Alternate Webpage(s) | http://williereardon.ie/images/documents/ajmga38128.pdf |
| PubMed reference number | 28317252 |
| Alternate Webpage(s) | https://doi.org/10.1002/ajmg.a.38128 |
| Journal | Medline |
| Volume Number | 173A |
| Journal | American journal of medical genetics. Part A |
| Language | English |
| Access Restriction | Open |
| Content Type | Text |
| Resource Type | Article |