Expanding the clinical picture of theMECP2Duplication syndrome-Reference-Cited by-同舟云学术

Expanding the clinical picture of theMECP2Duplication syndrome

Published:2016-07-21 Issue:4 Volume:91 Page:557-563
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Lim Z.¹,Downs J.¹²,Wong K.¹,Ellaway C.³⁴⁵,Leonard H.¹

Affiliation:

1. Telethon Kids Institute; University of Western Australia; Perth Australia

2. School of Physiotherapy and Exercise Science; Curtin University; Perth Australia

3. Discipline of Genetic Medicine; The University of Sydney; Sydney Australia

4. Discipline of Child and Adolescent Health; The University of Sydney, The Children's Hospital at Westmead; Sydney Australia

5. Western Sydney Genetic Program; Sydney Children's Hospitals Network (Westmead); Sydney NSW, Australia

Funder

International Rett Syndrome Foundation

InterRett

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.12814/fullpdf

Reference36 articles.

1. The impact of MeCP2 loss-or gain-of-function on synaptic plasticity;Na;Neuropsychopharmacology,2013

2. Developmental abnormalities of cortical interneurons precede symptoms onset in a mouse model of Rett syndrome;Tomassy;J Neurochem,2014

3. Effects of Mecp2 loss of function in embryonic cortical neurons: a bioinformatics strategy to sort out non-neuronal cells variability from transcriptome profiling;Vacca;BMC Bioinformat,2016

4. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2;Amir;Nat Genet,1999

5. Trends in the diagnosis of Rett syndrome in Australia;Fehr;Pediatr Res,2011

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