Variant Rett syndrome in a girl with a pericentric X‐chromosome inversion leading to epigenetic changes and overexpression of the MECP2 gene-Reference-Cited by-同舟云学术

Variant Rett syndrome in a girl with a pericentric X‐chromosome inversion leading to epigenetic changes and overexpression of the MECP2 gene

Published:2015-08-10 Issue:1 Volume:46 Page:82-87
ISSN:0736-5748
Container-title:International Journal of Developmental Neuroscience
language:en
Short-container-title:Int. j. dev. neurosci.

Author:

Vieira José Pedro¹,Lopes Fátima²³,Silva‐Fernandes Anabela²³,Sousa Maria Vânia¹,Moura Sofia²³,Sousa Susana²³,Costa Bruno M.²³,Barbosa Mafalda⁴⁵,Ylstra Bauke⁶,Temudo Teresa⁷,Lourenço Teresa¹,Maciel Patrícia²³

Affiliation:

1. Neurology DepartmentHospital Dona EstefâniaCentro Hospitalar de Lisboa CentralPortugal

2. Life and Health Sciences Research Institute (ICVS)School of Health SciencesUniversity of MinhoBragaPortugal

3. ICVS/3B's – PT Government Associate LaboratoryBragaGuimarãesPortugal

4. Department of Genetics and Genomic SciencesThe Mindich Child Health & Development InstituteThe Seaver Autism Center for Research and TreatmentIcahn School of Medicine at Mount SinaiMount SinaiNYUSA

5. Instituto Gulbenkian de CiênciaOeirasPortugal

6. Department of PathologyVU University Medical CenterAmsterdamThe Netherlands

7. Neuropediatrics DepartmentCentro Hospitalar do PortoPortugal

Publisher

Wiley

Subject

Developmental Biology,Developmental Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1016/j.ijdevneu.2015.07.010

Reference22 articles.

1. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

2. Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication