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对DEGCAGS综合征的表观基因和表型特征

Karim Karimi1, Denisa Weis2, Ingvild Aukrust3,4

  • 1Molecular Diagnostics Program, and Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada.

European journal of human genetics : EJHG
|October 18, 2024
PubMed
概括

胃肠道,心血管,生殖尿道和骨异常综合征 (DEGCAGS) 的发育迟缓是由ZNF699变体引起的. 独特的DNA甲基化特征有助于诊断这种可变的疾病.

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