A Novel Germ Line Mutation in SOX9 Causes Familial Campomelic Dysplasia and Sex Reversal

By Cameron Fergus J.   Hageman Robyn M.   Cooke-Yarborough Claire   Kwok Cheni   Goodwin Linda L.   Sillence David O.   Sinclair Andrew H.  

Human Molecular Genetics, Vol. 5, Iss. 10, 1996-10 ,pp. : 1625-1630

Oxford University Press

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

By Meyer Jobst   Südbeck Peter   Held Marika   Wagner Thomas   Schmitz M. Lienhard   Dagna Bricarelli Franca   Eggermont Ephrem   Friedrich Ursula   Haas Oskar A.   Kobelt Albrecht   Leroy Jules G.   Van Maldergem Lionel   Michel Erik   Mitulla Beate   Pfeiffer Rudolf A.   Schinzel Albert   Schmidt Heinrich   Scherer Gerd  

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

Oxford University Press

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Isolation of a Testis-Specific cDNA on Chromosome 17q from a Region Adjacent to the Breakpoint of t(12, 17) Observed in a Patient with Acampomelic Campomelic Dysplasia and Sex Reversal

By Ninomiya Shinsuke  

Human Molecular Genetics, Vol. 5, Iss. 1, 1996-01 ,pp. : 69-72

Oxford University Press

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Testicular dysgenesis/regression without campomelic dysplasia in patients carrying missense mutations and upstream deletion of SOX9

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Molecular Genetics & Genomic Medicine, Vol. 3, Iss. 6, 2015-11 ,pp. : 550-557

John Wiley & Sons Inc

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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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