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

Author

Ohnesorg, T., Bergen, J.A., Belluoccio, D., Shankara‐Narayana, N., Kean, A.‐M., Vasilaras, A., Ewans, L., Ayers, K.L., and Sinclair, A.H.

Subjects
TESTICULAR diseases, PHENOTYPES, PATIENTS
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. [ABSTRACT FROM AUTHOR]

Published
2017
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