Clinical impact and in vitro characterization of ADNP variants in pediatric patients
Abstract Background Helsmoortel–Van der Aa syndrome (HVDAS) is a rare genetic disorder caused by variants in the activity-dependent neuroprotector homeobox (ADNP) gene; hence, it is also called ADNP syndrome. ADNP is a multitasking protein with the function as a transcription factor, playing a criti...
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| Asıl Yazarlar: | , , , , , , , , , , , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
BMC
2024-01-01
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| Seri Bilgileri: | Molecular Autism |
| Konular: | |
| Online Erişim: | https://doi.org/10.1186/s13229-024-00584-7 |
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