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publicationName American journal of medical genetics. Part A
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bibliographicCitation Matsushita M, Kitoh H, Kaneko H, Mishima K, Kadono I, Ishiguro N, Nishimura G. A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome. American J of Med Genetics Pt A. 2013 Aug 16;161(10):2528–34. doi: 10.1002/ajmg.a.36134.
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title A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome
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