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Angelman syndrome
- ... likely causes many of the characteristic features of Angelman syndrome, a complex genetic disorder that primarily affects the ... or delete the UBE3A gene. Most cases of Angelman syndrome (about 70 percent) occur when a segment of ...
- ... 15 that is often deleted in individuals with Angelman syndrome. A loss of this gene does not cause the characteristic neurologic features of Angelman syndrome; however, people with this condition who are missing ...
- ... Rett syndrome and signs and symptoms similar to Angelman syndrome (a condition characterized by intellectual disability, problems with ... MRX79 PPMX RTS RTT Tests of MECP2 PubMed ANGELMAN SYNDROME; AS AUTISM METHYL-CpG-BINDING PROTEIN 2; MECP2 ...
- ... CE. Two percent of patients suspected of having Angelman syndrome have TCF4 mutations. Clin Genet. 2010 Sep;78( ...