Atypical presentation of Angelman syndrome with intact expressive language due to low-level mosaicism.
Ruchi PunatarAlena EgenseRong MaoMelinda ProcterMichelle BosworthDenise I QuigleyKathleen AngkustsiriSuma P ShankarPublished in: Molecular genetics & genomic medicine (2022)
A broader phenotypic spectrum should be considered for AS as patients with atypical presentations may otherwise elude diagnosis.
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