The array of clinical phenotypes of males with mutations in Methyl‐CpG binding protein 2-Reference-Cited by-同舟云学术

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The array of clinical phenotypes of males with mutations in Methyl‐CpG binding protein 2

Published:2018-12-07 Issue: Volume: Page:
ISSN:1552-4841
Container-title:American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Neul Jeffrey L.¹²^ORCID,Benke Timothy A.³,Marsh Eric D.⁴,Skinner Steven A.⁵,Merritt Jonathan¹²,Lieberman David N.⁶,Standridge Shannon⁷,Feyma Timothy⁸,Heydemann Peter⁹,Peters Sarika¹,Ryther Robin¹⁰,Jones Mary¹¹,Suter Bernhard¹²,Kaufmann Walter E.⁵,Glaze Daniel G.¹²,Percy Alan K.¹³

Affiliation:

1. Vanderbilt University Medical Center Nashville Tennessee

2. University of California San Diego California

3. University of Colorado School of Medicine Aurora Colorado

4. Children's Hospital of Philadelphia, University of Pennsylvania Philadelphia Pennsylvania

5. Greenwood Genetic Center Greenwood South Carolina

6. Boston Children's Hospital Boston Massachusetts

7. Cincinnati Children's Hospital Cincinnati Ohio

8. Gilette Children's Specialty Healthcare St. Paul Minnesota

9. Rush University Medical Center Chicago Illinois

10. Washington University School of Medicine St. Louis Missouri

11. University of California, San Francisco Benioff Children's Hospital Oakland Oakland California

12. Baylor College of Medicine Houston Texas

13. University of Alabama at Birmingham Birmingham Alabama

Funder

Eunice Kennedy Shriver National Institute of Child Health and Human Development

National Center for Advancing Translational Sciences

National Institutes of Health

International Rett Syndrome Foundation

Publisher

Wiley

Subject

Cellular and Molecular Neuroscience,Psychiatry and Mental health,Genetics (clinical)

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.b.32707

Reference50 articles.

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

2. Variable phenotypic expression of a MECP2 mutation in a family

3. An AT-Hook Domain in MeCP2 Determines the Clinical Course of Rett Syndrome and Related Disorders

4. MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability

5. MECP2 mutations or polymorphisms in mentally retarded boys: Diagnostic implications;Bourdon V.;Molecular Diagnosis,2003

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