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bibliographicCitation Staffler A, Hammel M, Wahlbuhl M, Bidlingmaier C, Flemmer AW, Pagel P, Nicolai T, Wegner M, Holzinger A. Heterozygous SOX9 mutations allowing for residual DNA-binding and transcriptional activation lead to the acampomelic variant of campomelic dysplasia. Hum Mutat. 2010 Jun;31(6):E1436–44. doi: 10.1002/humu.21238. PMID: 20513132.
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title Heterozygous SOX9 Mutations Allowing for Residual DNA-binding and Transcriptional Activation Lead to the Acampomelic Variant of Campomelic Dysplasia
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