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Unusual double mutation in MECP2 and CDKL5 genes in Rett-like syndrome: Correlation with phenotype and genes expression.

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Title: Unusual double mutation in MECP2 and CDKL5 genes in Rett-like syndrome: Correlation with phenotype and genes expression.
Authors: Jdila MB; Research Laboratory 'NeuroPédiatrie' (LR19ES15), Sfax Medical School, Sfax University, Tunisia; Laboratory of Molecular and Functional Genetics, Faculty of Science of Sfax, Sfax University, Tunisia. Electronic address: benjdilamarwa@yahoo.com., Triki CC; Research Laboratory 'NeuroPédiatrie' (LR19ES15), Sfax Medical School, Sfax University, Tunisia; Child Neurology Department, Hedi Chaker Universitary Hospital of Sfax, Tunisia., Ghorbel R; Laboratory of Molecular and Functional Genetics, Faculty of Science of Sfax, Sfax University, Tunisia., Bouchalla W; Research Laboratory 'NeuroPédiatrie' (LR19ES15), Sfax Medical School, Sfax University, Tunisia; Child Neurology Department, Hedi Chaker Universitary Hospital of Sfax, Tunisia., Ncir SB; Research Laboratory 'NeuroPédiatrie' (LR19ES15), Sfax Medical School, Sfax University, Tunisia; Child Neurology Department, Hedi Chaker Universitary Hospital of Sfax, Tunisia., Kamoun F; Research Laboratory 'NeuroPédiatrie' (LR19ES15), Sfax Medical School, Sfax University, Tunisia; Child Neurology Department, Hedi Chaker Universitary Hospital of Sfax, Tunisia., Fakhfakh F; Laboratory of Molecular and Functional Genetics, Faculty of Science of Sfax, Sfax University, Tunisia. Electronic address: faiza.fakhfakh02@gmail.com.
Source: Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2020 Sep; Vol. 508, pp. 287-294. Date of Electronic Publication: 2020 May 20.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 1302422 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-3492 (Electronic) Linking ISSN: 00098981 NLM ISO Abbreviation: Clin Chim Acta Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Unusual double mutation in MECP2 and CDKL5 genes in Rett-like syndrome: Correlation with phenotype and genes expression.
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  Data: <searchLink fieldCode="AU" term="%22Jdila+MB%22">Jdila MB</searchLink>; Research Laboratory 'NeuroPédiatrie' (LR19ES15), Sfax Medical School, Sfax University, Tunisia; Laboratory of Molecular and Functional Genetics, Faculty of Science of Sfax, Sfax University, Tunisia. Electronic address: benjdilamarwa@yahoo.com.<br /><searchLink fieldCode="AU" term="%22Triki+CC%22">Triki CC</searchLink>; Research Laboratory 'NeuroPédiatrie' (LR19ES15), Sfax Medical School, Sfax University, Tunisia; Child Neurology Department, Hedi Chaker Universitary Hospital of Sfax, Tunisia.<br /><searchLink fieldCode="AU" term="%22Ghorbel+R%22">Ghorbel R</searchLink>; Laboratory of Molecular and Functional Genetics, Faculty of Science of Sfax, Sfax University, Tunisia.<br /><searchLink fieldCode="AU" term="%22Bouchalla+W%22">Bouchalla W</searchLink>; Research Laboratory 'NeuroPédiatrie' (LR19ES15), Sfax Medical School, Sfax University, Tunisia; Child Neurology Department, Hedi Chaker Universitary Hospital of Sfax, Tunisia.<br /><searchLink fieldCode="AU" term="%22Ncir+SB%22">Ncir SB</searchLink>; Research Laboratory 'NeuroPédiatrie' (LR19ES15), Sfax Medical School, Sfax University, Tunisia; Child Neurology Department, Hedi Chaker Universitary Hospital of Sfax, Tunisia.<br /><searchLink fieldCode="AU" term="%22Kamoun+F%22">Kamoun F</searchLink>; Research Laboratory 'NeuroPédiatrie' (LR19ES15), Sfax Medical School, Sfax University, Tunisia; Child Neurology Department, Hedi Chaker Universitary Hospital of Sfax, Tunisia.<br /><searchLink fieldCode="AU" term="%22Fakhfakh+F%22">Fakhfakh F</searchLink>; Laboratory of Molecular and Functional Genetics, Faculty of Science of Sfax, Sfax University, Tunisia. Electronic address: faiza.fakhfakh02@gmail.com.
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  Data: <searchLink fieldCode="JN" term="%221302422%22">Clinica chimica acta; international journal of clinical chemistry</searchLink> [Clin Chim Acta] 2020 Sep; Vol. 508, pp. 287-294. <i>Date of Electronic Publication: </i>2020 May 20.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier%22">Elsevier </searchLink><i>Country of Publication: </i>Netherlands <i>NLM ID: </i>1302422 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1873-3492 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200098981%22">00098981 </searchLink><i>NLM ISO Abbreviation: </i>Clin Chim Acta <i>Subsets: </i>MEDLINE
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        Value: 10.1016/j.cca.2020.05.037
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      – Code: eng
        Text: English
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        StartPage: 287
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      – TitleFull: Unusual double mutation in MECP2 and CDKL5 genes in Rett-like syndrome: Correlation with phenotype and genes expression.
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            – D: 01
              M: 09
              Text: 2020 Sep
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