Clinical and genetic characterization of 47 Chinese pediatric patients with Pitt–Hopkins syndrome: a retrospective study
Abstract Background Pitt–Hopkins syndrome (PTHS) is a neurodevelopmental disorder that remains underdiagnosed and its clinical presentations and mutation profiles in a diverse population are yet to be evaluated. This retrospective study aims to investigate the clinical and genetic characteristics of...
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| Hauptverfasser: | , , , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
BMC
2024-02-01
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| Schriftenreihe: | Orphanet Journal of Rare Diseases |
| Schlagworte: | |
| Online-Zugang: | https://doi.org/10.1186/s13023-024-03055-7 |
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