Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements-Reference-Cited by-同舟云学术

Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements

Published:2018-12-07 Issue:3 Volume:95 Page:403-408
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Schönewolf‐Greulich Bitten¹²^ORCID,Bisgaard Anne‐Marie¹,Dunø Morten³,Jespersgaard Cathrine²,Rokkjær Mette⁴,Hansen Lars K.⁵,Tsoutsou Eirini⁶,Sofokleous Christalena⁶,Topcu Meral⁷,Kaur Simran⁸,Van Bergen Nicole J.⁸,Brøndum‐Nielsen Karen³,Larsen Martin J.⁹,Sørensen Kristina P.⁹,Christodoulou John⁸,Fagerberg Christina R.⁹,Tümer Zeynep²¹⁰

Affiliation:

1. Department of Paediatrics and Adolescent MedicineCenter for Rett Syndrome, Rigshospitalet Copenhagen Denmark

2. Kennedy Center, Department of Clinical GeneticsCopenhagen University Hospital, Rigshospitalet Copenhagen Denmark

3. Department of Clinical GeneticsCopenhagen University Hospital, Rigshospitalet Copenhagen Denmark

4. Department of PediatricsKolding Hospital Kolding Denmark

5. Hans Christian Andersen Children's HospitalOdense University Hospital Odense Denmark

6. Medical Genetics DepartmentNational and Kapodistrian University of Athens, “Aghia Sophia” Children's Hospital Athens Greece

7. Department of Medical Genetics, Hacettepe Medical School Ankara Turkey

8. Department of Paediatrics, Murdoch Children's Research InstituteUniversity of Melbourne Melbourne Australia

9. Department of Clinical GeneticsOdense University Hospital Odense Denmark

10. Department of Clinical MedicineFaculty of Health and Medical Sciences, University of Copenhagen Copenhagen Denmark

Funder

Dronning Louises Børnehospitals Forskningsfond

State Government of Victoria

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13473

Reference20 articles.

1. Über ein eigenartiges hirnatrophisches Syndrom bei Hyperammonämie im Kindersalter;Rett A;Wiener Medizinische Wochenschrift,1966

2. Rett syndrome: Revised diagnostic criteria and nomenclature

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

4. RettBASE: The IRSA MECP2 variation database—a new mutation database in evolution

5. MECP2 mutations in males

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4. Postzygotic mutations and where to find them – Recent advances and future implications in the field of non-neoplastic somatic mosaicism;Mutation Research/Reviews in Mutation Research;2022-07

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