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Article

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

Clinica chimica acta; international journal of clinical chemistry - 1 Sept 2020

Jdila Marwa Ben, Triki Chahnez Charfi, Ghorbel Rania, Bouchalla Wafa, Ncir Sihem Ben, Kamoun Fatma, Fakhfakh Faiza

Abstract excerpt

INTRODUCTION: Rett syndrome (RTT) is a neuro-developmental disorder affecting almost exclusively females and it divided into classical and atypical forms of the disease. RTT-like syndrome was also described and presents an overlapping phenotype of RTT. RTT-like syndrome has been associated with several genes including MECP2 and CDKL5 having common biological pathways and regulatory interactions especially during...

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PMID: 32445745
DOI: 10.1016/j.cca.2020.05.037

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