Large deletions of the MECP2 gene detected by gene dosage analysis in patients 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. Mutation in the CYP21B gene (Ile-172-Asn) causes steroid 21-hydroxylase deficiency;Amor;Proc Natl Acad Sci USA,1988
3. Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes;Aradhya;Hum Mol Genet,2001
4. A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations;Aradhya;Hum Mol Genet,2001
5. MECP2 mutations account for most cases of typical forms of Rett syndrome;Bienvenu;Hum Mol Genet,2000
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