Journal article
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, JA van den Bergen, D Belluoccio, N Shankara-Narayana, AM Kean, A Vasilaras, L Ewans, KL Ayers, AH Sinclair
Clinical Genetics | WILEY | Published : 2017
DOI: 10.1111/cge.12976
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.
Grants
Awarded by National Health and Medical Research Council
Funding Acknowledgements
T.O. was supported by NHMRC Project grant APP1031214. A.H.S. was awarded an NMHRC Program grant APP1074258 and Research Fellowship APP1062854. Thanks to Prof. Handelsman and Prof. Twigg for critical review.