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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...
保存先:
| 出版年: | J Pediatr Genet |
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| 主要な著者: | , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Georg Thieme Verlag KG
2014
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| オンライン･アクセス: | 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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