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Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12.
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.
Affiliation
  • Goubau C; 1] Department of cardiovascular sciences, Centre for Molecular and Vascular Biology, KU Leuven, Leuven, Belgium [2] Department of Pediatrics, UZ Leuven, Leuven, Belgium.
Eur J Hum Genet ; 21(12): 1349-55, 2013 Dec.
Article in En | MEDLINE | ID: mdl-23632790
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Translocation, Genetic / Blood Platelets / Chromosomes, Human, Pair 14 / Rett Syndrome / Forkhead Transcription Factors / Mutation / Nerve Tissue Proteins Limits: Adult / Child / Female / Humans / Male Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2013 Document type: Article Affiliation country: Belgium Country of publication: United kingdom
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Translocation, Genetic / Blood Platelets / Chromosomes, Human, Pair 14 / Rett Syndrome / Forkhead Transcription Factors / Mutation / Nerve Tissue Proteins Limits: Adult / Child / Female / Humans / Male Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2013 Document type: Article Affiliation country: Belgium Country of publication: United kingdom