| Autor: |
Z, Hussain, K, Logamuthukrishnan, S, Dharmarajan, G, Thiagarajan, S D, Subbaiah, Gsj, Narayana, M, Anbuselvam, L, Murugan, S, Pugazhendhi |
| Rok vydání: |
2018 |
| Zdroj: |
Neurology India. 45(1) |
| ISSN: |
0028-3886 |
| Popis: |
We report a female infant with features suggestive of Oral Facial Digital Syndrome (OFDS) Type I and associated cerebellar anomalies with Dandy-Walker malformation which suggest OFDS Type VI. The phenotypic overlap in this child OFDS type I and TypeVI raises the question as to whether they represent separate genetic entities. This pattern of abnormalities appears to be unique. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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