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Pure interstitial dup(6)(q22.31q22.31) – a case report
‘Pure’ interstitial duplication of chr6q is rare. The varying size of duplication encompassing 6q22.31 is associated with the expressivity of dysmorphism and autism. Here, we report a unique case with facial dysmorphism, developmental delay, complex neurological impairment and spasticity unrelated t...
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| 發表在: | Ital J Pediatr |
|---|---|
| Main Authors: | , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
BioMed Central
2015
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4347966/ https://ncbi.nlm.nih.gov/pubmed/25637059 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13052-015-0113-y |
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