Blended phenotype of AP4E1 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15

Hiroaki Murakami, Tomoko Uehara, Yoshinori Tsurusaki, Yumi Enomoto, Yukiko Kuroda, Noriko Aida, Kenjiro Kosaki, Kenji Kurosawa

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Medicine & Life Sciences