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COL2A1 mutation in spondylometaphyseal dysplasia algerian type

Molecular Syndromology (2013) 4(3) 148-151
DOI: 10.1159/000346644
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Abstract

Spondylometaphyseal dysplasia Algerian type (SMD-A) is an autosomal dominant disorder that was first reported in an Algerian family by Kozlowski et al. Copyright © 2013 S. Karger AG, Basel.

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Matsubayashi, S., Ikema, M., Ninomiya, Y., Yamaguchi, K., Ikegawa, S., & Nishimura, G. (2013). COL2A1 mutation in spondylometaphyseal dysplasia algerian type. Molecular Syndromology, 4(3), 148–151. https://doi.org/10.1159/000346644

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