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

Brain and Development - Tập 42 - Trang 289-292 - 2020
Hiroaki Murakami1, Tomoko Uehara2, Yoshinori Tsurusaki3, Yumi Enomoto3, Yukiko Kuroda1, Noriko Aida4, Kenjiro Kosaki2, Kenji Kurosawa1
1Division of Medical Genetics, Kanagawa Children’s Medical Center, Yokohama, Japan
2Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan
3Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan
4Department of Radiology, Kanagawa Children’s Medical Center, Yokohama, Japan

Tài liệu tham khảo

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