A Japanese familial case of Schmid metaphyseal chondrodysplasia with a novel mutation in COL10A1.

Clin Pediatr Endocrinol

Department of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.

Published: July 2016

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4965511PMC
http://dx.doi.org/10.1297/cpe.25.107DOI Listing

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