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December 10, 2018Nature CommunicationsOpen Access

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

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Authors

BCBrittany CroftRoyal Children's HospitalTOThomas OhnesorgGarvan Institute of Medical ResearchJHJacqueline HewittMonash Health

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Cite This Study

Croft et al. (2018) studied this question.

synapsesocial.com/papers/6a029bc967f6ea5cc8754d96https://doi.org/10.1038/s41467-018-07784-9
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Also Consider

Synapse has enriched 3 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1The Role of Copy Number Variants in Disorders of Sex Development2017 · 55 citations
  2. 2Multiplex Genome Engineering Using CRISPR/Cas Systems2013 · 16,043 citations
  3. 3Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development2011 · 192 citations