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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.

T Ohnesorg, J A van den Bergen, D Belluoccio, N Shankara-Narayana, A-M Kean, A Vasilaras, L Ewans, K L Ayers, A H Sinclair
Clinical Genetics 2017 September
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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