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A case of Pitt-Hopkins syndrome presented with Angelman-like syndromic phenotypes
Pitt-Hopkins syndrome (PTHS), caused by a TCF4 gene mutation, is a condition characterized by intellectual disability and developmental delay, breathing anomalies, epilepsy, and distinctive facial dysmorphism [1]. Its diverse clinical appearance causes pediatricians to confuse it with Angelman syndr...
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| Udgivet i: | Biomedicine (Taipei) |
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| Main Authors: | , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
China Medical University
2016
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5147553/ https://ncbi.nlm.nih.gov/pubmed/27864810 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7603/s40681-016-0025-1 |
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