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16p11.2重复发生的染色体重组的表型谱

Anastasios K Mitrakos1,2, Konstantina Kosma1, Periklis Makrythanasis1

  • 1Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia Children's Hospital, 11527 Athens, Greece.

Genes
|August 29, 2024
PubMed
概括

在15名患有神经发育障碍的患者中发现了反复出现的16p11.2重组. 这些副本数变异 (CNVs) 显示出显著的表型变异性,影响神经精神疾病和身体特征.

关键词:
16p11.2 在16p11.2中使用.副本编号变体 (CNVs) 的变体远端16p11.2删除综合征临近的16p11.2删除综合征

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