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
Description
ISSN:1873-3492
DOI:10.1016/j.cca.2020.05.037