Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12

The Forkhead box G1 (FOXG1) gene encodes a transcriptional repressor essential for early development of the telencephalon. Intragenic mutations and gene deletions leading to haploinsufficiency cause the congenital variant of Rett syndrome. We here describe Rett syndrome-like patients, three of them...

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Bibliografski detalji
Glavni autori: Goubau, Christophe, Devriendt, Koen, Van der Aa, Nathalie, Crepel, An, Wieczorek, Dagmar, Kleefstra, Tjitske, Willemsen, Marjolein H, Rauch, Anita, Tzschach, Andreas, de Ravel, Thomy, Leemans, Peter, Van Geet, Chris, Buyse, Gunnar, Freson, Kathleen
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group 2013
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Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3831085/
https://ncbi.nlm.nih.gov/pubmed/23632790
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.86
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