Case of mild Schmid-type metaphyseal chondrodysplasia with novel sequence variation involving an unusual mutational site of the COL10A1 gene

Hyunwoong Park, Susie Hong, Sung Im Cho, Tae Joon Cho, In Ho Choi, Dong Kyu Jin, Young Bae Sohn, Sung Won Park, Hyun Hae Cho, Jung Eun Cheon, So Yeon Kim, Ji Yeon Kim, Sung Sup Park, Moon Woo Seong

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Biochemistry, Genetics and Molecular Biology