Rare Rett-causing Mosaic Mutation Found for 1st Time in Male Patient

Rare Rett-causing Mosaic Mutation Found for 1st Time in Male Patient

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Rare Rett-causing Mosaic Mutation Found for 1st Time in Male Patient

A mosaic mutation — one that is present in only some body cells — causing Rett syndrome was found in a 2-year-old boy in India, a report says. According to researchers, this is the first time this specific mutation has been reported in a male patient. The report, “A rare case of a male child with post-zygotic de novo mosaic variant c.538C > T in MECP2 gene: a case report of Rett syndrome,” was published in BMC…

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