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Constitutional Tandem Duplication of 9q34 that Truncates EHMT1 in a Child with Ganglioglioma
Point mutations of EHMT1 or deletions and duplications of chromosome 9q34.3 are found in patients with variable neurologic and developmental disorders. Here, we present a child with congenital cataract, developmental and speech delay who developed a metastatic ganglioglioma with progression to anapl...
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| Asıl Yazarlar: | , , , , , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
2011
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3202030/ https://ncbi.nlm.nih.gov/pubmed/21681934 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/pbc.23219 |
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