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

著录项

• 来源
  《Clinical Genetics: An International Journal of Genetics in Medicine》 |2017年第3期|共3页
• 作者

  Ohnesorg T.; van den Bergen J. A.; Belluoccio D.; Shankara-Narayana N.; Kean A. -M.; Vasilaras A.; Ewans L.; Ayers K. L.; Sinclair A. H.;

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• 作者单位

  Murdoch Childrens Res Inst Mol Dev Melbourne Vic Australia;

  Murdoch Childrens Res Inst Mol Dev Melbourne Vic Australia;

  Agilent Technol Dept Genom Mulgrave Vic Australia;

  Royal Prince Alfred Hosp Endocrinol &

  Metab Ctr Sydney NSW Australia;

  Royal Prince Alfred Hosp Endocrinol &

  Metab Ctr Sydney NSW Australia;

  Royal Prince Alfred Hosp Endocrinol &

  Metab Ctr Sydney NSW Australia;

  Royal Prince Alfred Hosp Dept Med Genom Sydney NSW Australia;

  Murdoch Childrens Res Inst Mol Dev Melbourne Vic Australia;

  Murdoch Childrens Res Inst Mol Dev Melbourne Vic Australia;

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• 收录信息
• 原文格式 PDF
• 正文语种 eng
• 中图分类 医学遗传学;
• 关键词

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

  机译：性发展障碍;增强剂;GONADS;SOX9;睾丸;转录规则;