Presentation Information
[P2-08-18]Missense variant in PDZ domain of DLG3 causes more severe syndromic X-linked intellectual developmental disorder
○Shiomi Otsuji1, Kenichiro Yamada2, Seiji Mizuno1, Yasuyo Suzuki2, Natsuki Nakamura1, Tomoko Uehara1, Mamiko Yamada3, Hisato Suzuki3, Toshiki Takenouchi4, Kenjiro Kosaki3, Shin Hayashi2, Mie Inaba1 (1.Department of Pediatric Internal Medicine and Clinical genetics, Aichi Developmental Disability Center Central Hospital, Kasugai, Aichi, Japan, 2.Department of Genetics, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, Aichi, Japan, 3.Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan, 4.Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan)