Mutational Analysis of the SOX9 Gene in Campomelic Dysplasia and Autosomal Sex Reversal: Lack of Genotype/Phenotype Correlations

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Human Molecular Genetics, Vol. 6, Iss. 1, 1997-01 ,pp. : 91-98

Oxford University Press

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Translocation and Deletion around SOX9 in a Patient with Acampomelic Campomelic Dysplasia and Sex Reversal

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Karger

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Structural and functional characterization of the mouse Sox9 promoter: implications for campomelic dysplasia

By Kanai Y.   Koopman P.  

Human Molecular Genetics, Vol. 8, Iss. 4, 1999-04 ,pp. : 691-696

Oxford University Press

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Extended Pedigree with Multiple Cases of XX Sex Reversal in the Absence of SRY and of a Mutation at the SOX9 Locus

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Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia

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Human Molecular Genetics, Vol. 12, Iss. 12, 2003-06 ,pp. : 1439-1447

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