Age of Diagnosis in Rett Syndrome: Patterns of Recognition Among Diagnosticians and Risk Factors for Late Diagnosis-Reference-Cited by-同舟云学术

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Age of Diagnosis in Rett Syndrome: Patterns of Recognition Among Diagnosticians and Risk Factors for Late Diagnosis

Published:2015-06 Issue:6 Volume:52 Page:585-591.e2
ISSN:0887-8994
Container-title:Pediatric Neurology
language:en
Short-container-title:Pediatric Neurology

Author:

Tarquinio Daniel C.^ORCID,Hou Wei,Neul Jeffrey L.,Lane Jane B.,Barnes Katherine V.,O'Leary Heather M.,Bruck Natalie M.,Kaufmann Walter E.,Motil Kathleen J.,Glaze Daniel G.,Skinner Steven A.,Annese Fran,Baggett Lauren,Barrish Judy O.,Geerts Suzanne P.,Percy Alan K.

Funder

International Rett Syndrome Foundation

National Institutes of Health

Angelman, Rett, Prader-Willi syndrome consortium

Rare Disease Clinical Research Network

NIH

Office of Rare Diseases Research

National Center for Advancing Translational Science

Eunice Kennedy Shriver Child Health

Human Development Institute

NIH U54

IDDRC

Civitan International Research Center

Neuren Pharmaceuticals

Publisher

Elsevier BV

Subject

Neurology (clinical),Developmental Neuroscience,Neurology,Pediatrics, Perinatology and Child Health

Reference38 articles.

1. Rett syndrome: revised diagnostic criteria and nomenclature;Neul;Ann Neurol,2010

2. Clinical manifestations and stages of Rett syndrome;Hagberg;Ment Retard Dev Disabil Res Rev,2002

3. Developmental delay in Rett syndrome: data from the natural history study;Neul;J Neurodev Disord,2014

4. Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome;Cuddapah;J Med Genet,2014

5. Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome;Neul;Neurology,2008

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