Spotting Rare UBE3A Mutations Can Require Comprehensive Gene Testing

Spotting Rare UBE3A Mutations Can Require Comprehensive Gene Testing

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Spotting Rare UBE3A Mutations Can Require Comprehensive Gene Testing

A comprehensive genetic test called whole-exome sequencing (WES) can identify potential rare and disease-causing mutations that would be missed by standard tests for Angelman syndrome, a case report on a 2-year-old girl in Indonesia highlights. The case study, “The role of whole exome sequencing in the UBE3A point mutation of Angelman Syndrome: A case report,” was published in the journal Annals of Medicine & Surgery. Angelman syndrome is “marked by characteristic facial features, significant developmental…

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