Unusual double mutation in MECP2 and CDKL5 genes in Rett-like syndrome: Correlation with phenotype and genes expression-Reference-Cited by-同舟云学术

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

Published:2020-09 Issue: Volume:508 Page:287-294
ISSN:0009-8981
Container-title:Clinica Chimica Acta
language:en
Short-container-title:Clinica Chimica Acta

Author:

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

Publisher

Elsevier BV

Subject

Biochemistry, medical,Clinical Biochemistry,Biochemistry,General Medicine

Reference56 articles.

1. A novel CDKL5 mutation in a Japanese patient with atypical Rett syndrome;Christianto;ClinicaChim. Acta,2016

2. Rett syndrome: a prototypical neurodevelopmental disorder;Neul;The Neuroscientist,2004

3. Brief report: MECP2 mutations in people without Rett syndrome;Suter;J. Autism Dev. Disord.,2014

4. Rett syndrome: a neurological disorder with metabolic components;Kyle;Open Biol.,2018

5. Identification of novel genetic causes of Rett syndrome-like phenotypes;Lopes;J. Med. Genet.,2016

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4. Scrutinizing the molecular, biochemical, and cytogenetic attributes in subjects with Rett syndrome (RTT) and their mothers;Epilepsy & Behavior;2020-10

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