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

Authors :: Geerts-Haages, A
Bossuyt, SNV
den Besten, Ilse
Brüggenwirth, Hennie
van der Burgt, I
Yntema, HG
Punt, Mattijs
Brooks, Alice
Elgersma, Ype
Distel, Ben
Valstar, M.J.
Geerts-Haages, A
Bossuyt, SNV
den Besten, Ilse
Brüggenwirth, Hennie
van der Burgt, I
Yntema, HG
Punt, Mattijs
Brooks, Alice
Elgersma, Ype
Distel, Ben
Valstar, M.J.
Source :: 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 , vol. 8 , no. 11 , e1481 .
Publication Year :: 2020

Database :: OAIster
Journal :: 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 , vol. 8 , no. 11 , e1481 .
Notes :: application/pdf, English
Publication Type :: Electronic Resource
Accession number :: edsoai.on1313630646
Document Type :: Electronic Resource

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