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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...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Cheung, Hannah C., Yatsenko, Svetlana A., Kadapakkam, Meena, Legay, Hélène, Su, Jack, Lupski, James R., Plon, Sharon E.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2011
Schlagworte:
Online Zugang: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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