A Novel Homozygous Frameshift Mutation in the PLCB4 Gene Associated with Auriculocondylar Syndrome 2 and Accompanied by Mild Intellectual Disability
| Autor: | Gülsüm KAYHAN, Hasan Hüseyin KAZAN, Kübra OZTÜRK, Abdullah SEZER, Emriye Ferda PERÇİN |
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| Rok vydání: | 2022 |
| Předmět: | |
| Zdroj: | Turkiye Klinikleri Journal of Case Reports. 30:258-262 |
| ISSN: | 2147-9291 |
| DOI: | 10.5336/caserep.2022-89352 |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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