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

doi:10.1002/mgg3.1481

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 journal › Article › Academic

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Original language	English
Article number	e1481
Journal	Molecular Genetics and Genomic Medicine
Volume	8
Issue number	11
DOIs	https://doi.org/10.1002/mgg3.1481
Publication status	Published - 2020

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Geerts-Haages, A., Bossuyt, SNV., den Besten, I., Brüggenwirth, H., van der Burgt, I., Yntema, HG., Punt, M., Brooks, A., Elgersma, Y., Distel, B., & Valstar, M. J. (2020). 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. Molecular Genetics and Genomic Medicine, 8(11), [e1481]. https://doi.org/10.1002/mgg3.1481

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author = "A Geerts-Haages and SNV Bossuyt and {den Besten}, Ilse and Hennie Br{\"u}ggenwirth and {van der Burgt}, I and HG Yntema and Mattijs Punt and Alice Brooks and Ype Elgersma and Ben Distel and M.J. Valstar",

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Geerts-Haages, A, Bossuyt, SNV, den Besten, I, Brüggenwirth, H, van der Burgt, I, Yntema, HG, Punt, M , Brooks, A , Elgersma, Y , Distel, B & Valstar, MJ 2020, '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', Molecular Genetics and Genomic Medicine, vol. 8, no. 11, e1481. https://doi.org/10.1002/mgg3.1481

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, Ilse et al.

In: Molecular Genetics and Genomic Medicine, Vol. 8, No. 11, e1481, 2020.

Research output: Contribution to journal › Article › Academic

TY - JOUR

T1 - 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

AU - Geerts-Haages, A

AU - Bossuyt, SNV

AU - den Besten, Ilse

AU - Brüggenwirth, Hennie

AU - van der Burgt, I

AU - Yntema, HG

AU - Punt, Mattijs

AU - Brooks, Alice

AU - Elgersma, Ype

AU - Distel, Ben

AU - Valstar, M.J.

PY - 2020

Y1 - 2020

U2 - 10.1002/mgg3.1481

DO - 10.1002/mgg3.1481

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VL - 8

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M1 - e1481

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Geerts-Haages A, Bossuyt SNV, den Besten I, Brüggenwirth H, van der Burgt I, Yntema HG et al. 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. Molecular Genetics and Genomic Medicine. 2020;8(11). e1481. https://doi.org/10.1002/mgg3.1481