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Pitt-Hopkins syndrome: Mental retardation, psychomotor and developmental delays with facial dysmorphism
The Pitt-Hopkins syndrome is a very rare and severe genetic disease characterized by mental retardation, psychomotor and developmental delays with facial dysmorphism. It was first described in 1978 in patients with mental retardation and crisis of intermittent hyperventilation. The genetic cause is...
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| Publicado no: | J Pediatr Genet |
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| Main Authors: | , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Georg Thieme Verlag KG
2014
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| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5020997/ https://ncbi.nlm.nih.gov/pubmed/27625870 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/PGE-14094 |
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