Identification of Novel pro-2(IX) Collagen Gene Mutations in Two Families with Distinctive Oligo-Epiphyseal Forms of Multiple Epiphyseal Dysplasia
American Journal of Human Genetics
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1p33-p32.2 GeneReviews Google OMIM PubMed [Epiphyseal dysplasia, multiple] Epiphyseal dysplasia, multiple, 2 *Gene map locus 1p33-p32.2 EDM2 [Clinical features: mild short stature; flattened, irregular epiphyses; varus/valgus knee deformity; knee osteoarthritis; mildly short hands] [Inheritance: autosomal dominant] |
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Identification of Novel pro-2(IX) Collagen Gene Mutations in Two Families with Distinctive Oligo-Epiphyseal Forms of Multiple Epiphyseal Dysplasia |
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American Journal of Human Genetics |
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Edited by Aldo Campana,
August 21, 2012
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