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Clinical aspects of a large group of adults with Angelman syndrome.
den Besten I, de Jong RF, Geerts-Haages A, Bruggenwirth HT, Koopmans M; ENCORE Expertise Center for AS 18+; Brooks A, Elgersma Y, Festen DAM, Valstar MJ. den Besten I, et al. Am J Med Genet A. 2021 Jan;185(1):168-181. doi: 10.1002/ajmg.a.61940. Epub 2020 Oct 27. Am J Med Genet A. 2021. PMID: 33108066 Free PMC article.
A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome.
Geerts-Haages A, Bossuyt SNV, den Besten I, Bruggenwirth H, van der Burgt I, Yntema HG, Punt AM, Brooks A, Elgersma Y, Distel B, Valstar M. Geerts-Haages A, et al. Among authors: den besten i. Mol Genet Genomic Med. 2020 Nov;8(11):e1481. doi: 10.1002/mgg3.1481. Epub 2020 Sep 5. Mol Genet Genomic Med. 2020. PMID: 32889787 Free PMC article.