[P1-03] Poster Session 1-03　Pediatric Genetics 1

[P1-03-2] A novel combination of compound heterozygous AMPD2 variants in a Japanese girl with Pontocerebellar Hypoplasia Type 9

Shuhei Dohi¹, Junko Hotta^1,2, Kosuke Ito², Tomoyo Yamashita^1,2, Chie Ono², Toshiyuki Seto^1,2, Takashi Hamazaki¹ (1.Department of Pediatrics, Osaka Metropolitan University Graduate School of Medicine, Osaka, Japan, 2.Department of Medical Genetics, Osaka Metropolitan University Graduate School of Medicine, Osaka, Japan)

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