Log in to save to my catalogue

Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9

Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_e81c5e53ca074ef49a72aa8ab16f5fd8

Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9

About this item

Full title

Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9

Publisher

London: Nature Publishing Group UK

Journal title

Nature communications, 2018-12, Vol.9 (1), p.5319-10, Article 5319

Language

English

Formats

Publication information

Publisher

London: Nature Publishing Group UK

More information

Scope and Contents

Contents

Disorders of sex development (DSDs) are conditions affecting development of the gonads or genitalia. Variants in two key genes,
SRY
and its target
SOX9
, are an established cause of 46,XY DSD, but the genetic basis of many DSDs remains unknown. SRY-mediated
SOX9
upregulation in the early gonad is crucial for testis development, ye...

Alternative Titles

Full title

Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_e81c5e53ca074ef49a72aa8ab16f5fd8

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_e81c5e53ca074ef49a72aa8ab16f5fd8

Other Identifiers

ISSN

2041-1723

E-ISSN

2041-1723

DOI

10.1038/s41467-018-07784-9

How to access this item