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A duplication in a patient with 46,XX ovo-testicular disorder of sex development refines the SOX9 testis-specific regulatory region to 24 kb

Thomas Ohnesorg,Jocelyn A. van den Bergen,Daniele Belluoccio, N. Shankara-Narayana,A-M Kean, A. Vasilaras,Lisa Ewans,Katie L. Ayers,Andrew H. Sinclair

CLINICAL GENETICS（2017）

Cited 27|Views8
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Abstract
A custom CGH microarray that covers the SOX9 regulatory region. Log2 ratio scatterplot showing individual data points. Blue box highlights copy number gain with 3' breakpoint region magnified.
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Key words
disorders of sex development,enhancer,gonads,SOX9,testis,transcriptional regulation
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