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GENETICALLY, RETT SYNDROME (RTT) IS CAUSED BY MUTATIONS IN THE GENE MECP2 LOCATED ON THE X CHROMOSOME (WHICH IS INVOLVED IN TRANSCRIPTIONAL SILENCING AND EPIGENETIC REGULATION OF METHYLATED DNA), AND CAN ARISE SPORADICALLY OR FROM GERMLINE MUTATIONS. IN LESS THAN 10% OF RTT CASES, MUTATIONS IN THE GENES CDKL5 OR FOXG1 HAVE ALSO BEEN FOUND TO RESEMBLE IT. RETT SYNDROME IS INITIALLY DIAGNOSED BY CLINICAL OBSERVATION, BUT THE DIAGNOSIS IS DEFINITIVE WHEN THERE IS A GENETIC DEFECT IN THE MECP2 GENE.
