Učitavanje...

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...

Cijeli opis

Spremljeno u:
Bibliografski detalji
Glavni autori: Cheung, Hannah C., Yatsenko, Svetlana A., Kadapakkam, Meena, Legay, Hélène, Su, Jack, Lupski, James R., Plon, Sharon E.
Format: Artigo
Jezik:Inglês
Izdano: 2011
Teme:
Online pristup: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
Oznake: Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!