Atypical presentation of Angelman syndrome with intact expressive language due to low‐level mosaicism
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DOI: 10.1002/mgg3.2018
Abstract: Angelman syndrome (AS) occurs due to a lack of expression or function of the maternally inherited UBE3A gene. Individuals with AS typically have significant developmental delay, severe speech impairment with absent to minimal verbal language,… read more here.
Keywords: atypical presentation; syndrome intact; language; presentation angelman ... See more keywords