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|Title:||Acampomelic campomelic dysplasia with SOX9 mutation|
|Citation:||American Journal of Medical Genetics. Part A, 2000; 93(5):421-425|
|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.|
|Keywords:||Humans; Osteochondrodysplasias; High Mobility Group Proteins; Transcription Factors; Radiography; Mutation, Missense; Infant; Male; SOX9 Transcription Factor|
|Appears in Collections:||Paediatrics publications|
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