活动依赖神经保护蛋白 (ADNP) 的功能丧失,由结合受体位点突变引起Helsmoortel-Van der Aa综合征

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Claudio Peter D'Incal1,2, Dale John Annear1, Ellen Elinck1

  • 1Cognitive Genetics (CONGET), Centre for Medical Genetics (CMG), Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium Department of Medical Genetics, Antwerp, Belgium.

European journal of human genetics : EJHG
|February 29, 2024
PubMed
概括

一种新型的ADNP基因缺失,无法通过外基因测序检测到,在一个儿童中引起了Helsmoortel-Van der Aa综合征. 这项研究强调了全基因组甲基化分析和面部识别软件作为关键的诊断工具.

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