A novel COL10A1 mutation in a Metaphyseal chondrodysplasia, Schmid type case presented with an atypical course of clinically diagnosed vitamin D deficient rickets.

Hiroyuki Tanaka

[P1-8-15] A novel COL10A1 mutation in a Metaphyseal chondrodysplasia, Schmid type case presented with an atypical course of clinically diagnosed vitamin D deficient rickets.

^○Hiroyuki Tanaka¹, Mayuko Tamura¹, Chie Takahashi¹, Tsuyoshi Isojima¹, Nobuhiko Haga², Akira Oka¹, Sachiko Kitanaka¹ (1.Department of Pediatrics, Graduate School of Medicine, the University of Tokyo, 2.Department of Rehabilitation Medicine, Graduate School of Medicine, the University of Tokyo)

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P1-8: Bone & minerals

[P1-8-15] A novel COL10A1 mutation in a Metaphyseal chondrodysplasia, Schmid type case presented with an atypical course of clinically diagnosed vitamin D deficient rickets.

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