4.5 Letter

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

Journal

CLINICAL GENETICS
Volume 92, Issue 3, Pages 347-349

Publisher

WILEY
DOI: 10.1111/cge.12976

Keywords

disorders of sex development; enhancer; gonads; SOX9; testis; transcriptional regulation

Funding

  1. NHMRC Project [APP1031214]
  2. NMHRC [APP1074258, APP1062854]

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