Presentation Information
[P1-03-12]Compound heterozygous B3GALT6 variants in an infant with severe short stature and achondroplasia-like features
Tomohiro Hori1,2,3, Mai Mori1,2,3, Hideki Matsumoto1,3, Hideo Sasai1,2,3,4, Kazuo Kubota1,2,3, Michio Ozeki1,3, Norio Kawamoto1,3, Hidenori Ohnishi1,2,3 (1. Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan, 2. Clinical Genetics Center, Gifu University Hospital, Gifu, Japan, 3. Laboratory of Intractable and Rare Diseases, Graduate School of Medicine, Gifu University, Gifu, Japan, 4. Department of Early Diagnosis and Preventive Medicine for Rare Intractable Pediatric Diseases, Graduate School of Medicine, Gifu University, Gifu, Japan)
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