Case report: Pitt-Hopkins like syndrome with CNTNAP2 mutation
Abstract Background Pitt-Hopkins syndrome (PHS) is a rare cause of severe intellectual disability, seizures, language impairment, and peculiar facial dysmorphism. It is caused by a mutation in transcription factor 4 (TCF4). Through molecular karyotyping and mutational analysis, a study identified re...
Kaydedildi:
| Asıl Yazarlar: | , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
SpringerOpen
2020-12-01
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| Seri Bilgileri: | Egyptian Journal of Medical Human Genetics |
| Konular: | |
| Online Erişim: | https://doi.org/10.1186/s43042-020-00113-0 |
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