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- W2055294930 abstract "Acampomelic campomelic dysplasia is a rare clinical variant of the more commonly encountered campomelic dysplasia (CMD1), characterized by absence of long bone curvature (acampomelia). We present a patient with acampomelic CMD1 with a de novo SOX9 missense mutation and report his clinical course to age one year, thereby contributing to genotype-phenotype correlation in CMD1. 2000." @default.
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- W2055294930 date "2000-08-28" @default.
- W2055294930 modified "2023-10-13" @default.
- W2055294930 title "Acampomelic campomelic dysplasia with SOX9 mutation." @default.
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