Atypical presentations and specific genotypes are associated with a delay in diagnosis in females with Rett syndrome
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference45 articles.
1. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2;Amir;Nat Genet,1999
2. No change in the age of diagnosis for fragile X syndrome: Findings from a national parent survey;Bailey;Pediatrics,2009
3. Investigating genotype-phenotype relationships in Rett syndrome using an international dataset;Bebbington;Neurology,2008
4. Socioeconomic status in health research: One size does not fit all;Braveman;JAMA,2005
5. Nurse recognition of early deviation in development in home videos of infants with Rett disorder;Burford;J Intellect Disabil Res,2003
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