Article
Angelman syndrome genotypes manifest varying degrees of clinical severity and developmental impairment.
Molecular psychiatry - 1 Jul 2021
Keute Marius, Miller Meghan T, Krishnan Michelle L, Sadhwani Anjali, Chamberlain Stormy, Thibert Ronald L, Tan Wen-Hann, Bird Lynne M, Hipp Joerg F
Abstract excerpt
Angelman Syndrome (AS) is a severe neurodevelopmental disorder due to impaired expression of UBE3A in neurons. There are several genetic mechanisms that impair UBE3A expression, but they differ in how neighboring genes on chromosome 15 at 15q11-q13 are affected. There is evidence that different genetic subtypes present with different clinical severity, but a systematic quantitative investigation is lacking. Here...
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