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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Detalles Bibliográficos
Autores principales: Hong, Syuan-Yu, Chou, I-Ching, Lin, Wei-De, Tsai, Fuu-Jen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: China Medical University 2016
Materias:
Case Report
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

Internet

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

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