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Pitt-Hopkins Syndrome
Pitt-Hopkins syndrome (PTHS, MIM #610954) is characterized by severe intellectual disability, typical facial features and tendency to epilepsy, panting-and-holding breathing anomaly, stereotypic movements, constipation, and high myopia. Growth is normal or only mildly retarded, but half of the patie...
שמור ב:
| Main Authors: | , |
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| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
S. Karger AG
2012
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3366706/ https://ncbi.nlm.nih.gov/pubmed/22670138 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000335287 |
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