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Rett Syndrome traced to defective gene 'silencer'

caused by defects in other components in this pathway, perhaps autism, for example."

Though the scientists have identified a fraction of the mutations affecting their RTT patients, Zoghbi believes that they will find the other mutations in the DNA sequences of the MECP2 gene that have yet to be analyzed. And while the discovery of the mutations may someday suggest possible therapies for this tragic disorder, the more immediate result should be a test for the early diagnosis and prenatal detection of RTT.


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Contact: Jim Keeley
keeleyj@hhmi.org
301-215-8858
Howard Hughes Medical Institute
1-Oct-1999


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