Researchers Encourage Screening for New Mutations Linked to Angelman

Researchers Encourage Screening for New Mutations Linked to Angelman

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Researchers Encourage Screening for New Mutations Linked to Angelman

Screenings should be conducted for novel mutations in people with Angelman syndrome-like disease — those with clinical features of Angelman but whose genetic cause remains unknown — say researchers who recently identified 10 new variants. “A high rate of diagnosis is essential since it contributes to more appropriate clinical patient surveillance as well as family genetic counseling,” they wrote. Their study, “New genes involved in Angelman syndrome-like: Expanding the genetic spectrum,” was published in PLOS One.…

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