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MIRAGE SYNDROME: A NEW ADRENAL HYPOPLASIA SYNDROME CAUSED BY HETEROZYGOUS SAMD9 MUTATIONS
(9th Biannual meeting for Asia Pacific Pediatric Endocrine Society 2016)
2013 - 日本小児科学会 Fellowship Exchange Award between Pediatric Academic Societies and Japan Pediatric Society Identification and functional characterization of novel NPR2 mutations causing acromesomelic dysplasia, type Maroteaux and idiopathic short stature
