MECP2 Mutations and Rett Syndrome Phenotypes
DOI:
https://doi.org/10.15844/pedneurbriefs-14-5-10Keywords:
Rett Syndrome, Milder Phenotypes, X Chromosome InactivationAbstract
Seventy-one sporadic and 7 familial Rett syndrome (RTT) patients were screened for MECP2 mutations by direct sequencing and the pattern of X chromosome inactivation (XCI) was determined in 39 RTT patients at the Baylor College of Medicine, Houston, TX.Published
2000-05-01
Issue
Section
Rett Syndrome
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