A new case with the recurrent PURA p.(Phe233del) pathogenic variant: Expansion of the phenotype and review of the literature
| Autor: | Abir Ben Issa, Ikhlas Ben Ayed, Olfa Jallouli, Amal Souissi, Wafa Bouchaalla, Mariem Ben Said, Salma Mallouli, Saber Masmoudi, Chahnez Charfi Triki, Hassen Hadj Kacem, Fatma Kammoun |
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| Rok vydání: | 2023 |
| Předmět: | |
| Zdroj: | International Journal of Developmental Neuroscience. |
| ISSN: | 1873-474X 0736-5748 |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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