Presentation Information
[P1-09-03]A novel homozygous missense NPR2 variant identified in a patient with acromesomelic dysplasia, Maroteaux type
Kenichiro Nakamura1,3, Takao Matsuda2, Katsumasa Goto1, Takuya Hanaoka1,3, Noriyuki Kimura3 (1. Department of Neurology, NHO Nishibeppu National Hospital, 2. Department of Reproductive medicine and Genetics, NHO Nishibeppu National Hospital, 3. Department of Neurology, Faculty of Medicine, Oita university)
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