Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study-Reference-Cited by-同舟云学术

Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study

Published:2016-06-29 Issue:9 Volume:170 Page:2301-2309
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Halbach Nicky¹,Smeets Eric E.¹,Julu Peter²³,Witt‐Engerström Ingegerd³,Pini Giorgio⁴,Bigoni Stefania⁵,Hansen Stig⁶,Apartopoulos Flora⁶,Delamont Robert⁷,van Roozendaal Kees⁸,Scusa Maria F.⁴,Borelli Paolo⁹,Candel Math¹⁰,Curfs Leopold¹

Affiliation:

1. Netherlands Rett Expertise Center–GKCMaastricht University Medical CenterMaastrichtThe Netherlands

2. Neurodegeneration and NeuroinflamationImperial College LondonLondonUnited Kingdom

3. The National Swedish Rett CenterFrösönSweden

4. Tuscany Rett CenterVersilia HospitalCamaiore (Lucca)Italy

5. Medical Genetic UnitFerrara University HospitalFerraraItaly

6. Institute of Neurological SciencesSouthern General Hospital, NHS Greater, Glasgow and ClydeFerraraUnited Kingdom

7. Regional Neuroscience CenterKing's College Hospital NHS Foundation Trust and King's College LondonLondonUnited Kingdom

8. Clinical GenomicsMaastricht University Medical CenterMaastrichtThe Netherlands

9. Division of NeurologyVersilia HospitalCamaiore (Lucca)Italy

10. Department of Methodology and StatisticsSchool for Public Health and Primary Care CAPHRI, Maastricht UniversityMaastrichtThe Netherlands

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.37812

Reference46 articles.

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

3. Investigating genotype-phenotype relationships in Rett syndrome using an international data set

4. Updating the profile of C-terminal MECP2 deletions in Rett syndrome

5. The phenotype associated with a large deletion on MECP2

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