Presentation Information

[P1-03-3]Growth failure and neurodevelopmental delay caused by loss-of-function mutations in ACTB

Keiko Shimojima1,2, Takeaki Tamura3, Nobuhiko Nagano3, Ichiro Morioka3, Toshiyuki Yamamoto4 (1.Department of Transfusion Medicine and Cell Processing, Tokyo Womenʼs Medical University, Tokyo, Japan, 2.Institute of Medical Genetics, Tokyo Womenʼs Medical University, Tokyo, Japan, 3.Department of Pediatrics and Child Health, Nihon University School of Medicine, Tokyo, Japan, 4.Division of Gene Medicine, Graduate School of Medical Science, Tokyo Womenʼs Medical University, Tokyo, Japan)

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