Article
Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12.
European journal of human genetics : EJHG - 1 Dec 2013
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
Abstract excerpt
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 carrying a balanced translocation with breakpoint in the chromosome 14q12 region, and one patient having a 14q12...
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