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.1ORCID,van den Bergen J.A.1,Belluoccio D.2,Shankara-Narayana N.34,Kean A.-M.3,Vasilaras A.3,Ewans L.56,Ayers K.L.17,Sinclair A.H.17ORCID

Affiliation:

1. Molecular Development; Murdoch Childrens Research Institute; Melbourne Victoria Australia

2. Department of Genomics; Agilent Technologies Inc.; Mulgrave Victoria Australia

3. Endocrinology & Metabolism Centre; Royal Prince Alfred Hospital; Sydney New South Wales Australia

4. ANZAC Research Institute; University of Sydney; Sydney New South Wales Australia

5. Department of Medical Genomics; Royal Prince Alfred Hospital; Sydney New South Wales Australia

6. Central Clinical School, Sydney Medical School; University of Sydney; Sydney New South Wales Australia

7. Department of Paediatrics; University of Melbourne; Melbourne Victoria Australia

Funder

NHMRC

Research Fellowship

Publisher

Wiley

Subject

Genetics(clinical),Genetics

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