Angelman syndrome genotypes manifest varying degrees of clinical severity and developmental impairme...
Angelman syndrome genotypes manifest varying degrees of clinical severity and developmental impairment
About this item
Full title
Author / Creator
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
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Publisher
London: Nature Publishing Group UK
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Scope and Contents
Contents
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 cl...
Alternative Titles
Full title
Angelman syndrome genotypes manifest varying degrees of clinical severity and developmental impairment
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8505254
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8505254
Other Identifiers
ISSN
1359-4184
E-ISSN
1476-5578
DOI
10.1038/s41380-020-0858-6
