A novel variant in UBE3A in a family with multigenerational intellectual disability and developmental delay
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DOI: 10.1002/mgg3.1883
Abstract: Angelman syndrome (AS) is a rare neurodevelopmental disorder and is characterized by severe cognitive disability, motor dysfunction, speech impairment, hyperactivity, and frequent seizures. Although the maternal chromosomal region 15q11.2‐q13 deletion is the most common mechanism… read more here.
Keywords: novel variant; variant ube3a; disability; family multigenerational ... See more keywords