Presentation Information
[P1-03-13]A case of Macrocephaly and Developmental Delay with a Germline Pathogenic Variant in PIK3CA
Kosuke Nishida1, Naoya Morisada2, Chisako Aoki1, Hiroko Yonekawa1, Tomomi Nishida1, Atsushi Nishiyama1, Eiji Nanba1,3, Kunihiko Kaneda1, Kandai Nozu4 (1.Department of Medical Genetics, Kakogawa Central City Hospital, Hyogo, Japan, 2.Department of Clinical Genetics, Hyogo Prefectural Kobe Childrenʼs Hospital, 3.Ohtani Hospital, Seikenkai Medical Corporation, Okayama, Japan, 4.Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan)
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