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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
China Medical University
2016
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5147553/ https://www.ncbi.nlm.nih.gov/pubmed/27864810 http://dx.doi.org/10.7603/s40681-016-0025-1 |