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A case of a Tunisian Rett patient with a novel double-mutation of the MECP2 gene.
Fendri-Kriaa N, Hsairi I, Kifagi C, Ellouze E, Mkaouar-Rebai E, Triki C, Fakhfakh F; Tunisian network on mental retardation study. Fendri-Kriaa N, et al. Biochem Biophys Res Commun. 2011 Jun 3;409(2):270-4. doi: 10.1016/j.bbrc.2011.04.140. Epub 2011 May 7. Biochem Biophys Res Commun. 2011. PMID: 21575601
Founder effect confirmation of c.241A>G mutation in the L2HGDH gene and characterization of oxidative stress parameters in six Tunisian families with L-2-hydroxyglutaric aciduria.
Jellouli NK, Hadj Salem I, Ellouz E, Kamoun Z, kamoun F, tlili A, Kaabachi N, Triki C, Fakhfakh F; Tunisian Network on Mental Retardation study. Jellouli NK, et al. J Hum Genet. 2014 Apr;59(4):216-22. doi: 10.1038/jhg.2014.4. Epub 2014 Feb 27. J Hum Genet. 2014. PMID: 24573090