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

A Geerts-Haages, SNV Bossuyt, Ilse den Besten, Hennie Brüggenwirth, I van der Burgt, HG Yntema, Mattijs Punt, Alice Brooks, Ype Elgersma, Ben Distel, M.J. Valstar

Research output: Contribution to journalArticleAcademic

6 Citations (Scopus)
14 Downloads (Pure)
Original languageEnglish
Article numbere1481
JournalMolecular Genetics and Genomic Medicine
Volume8
Issue number11
DOIs
Publication statusPublished - 2020

Research programs

  • EMC NIHES-02-67-01

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