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2017•Clinical GeneticsOpen access

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, Nandini Shankara‐Narayana, Anne-Maree Kean, Arthur Vasilaras, Lisa Ewans, Katie Ayers, Andrew Sinclair

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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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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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OpenAlex reports 58 citations for this work. Citation counts describe recorded attention and do not establish research quality.

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Available 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.

Key concepts: Disorders of sex development, SOX9, Gene duplication, Biology, Testis determining factor, Genetics, Gene, Transcription factor

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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 — Research Paper | ScholarLens