Genotype-phenotype correlations in a fetus with Kleefstra syndrome

• Main Authors: Xuezhen Wang (Author), Jiebin Wu (Author), Min Pang (Author), Ying Liu (Author), Jingfang Zhai (Author)
• 格式: 圖書
• 出版: Elsevier, 2024-03-01T00:00:00Z.
• 主題: article
• 在線閱讀: Connect to this object online.

Objective: Kleefstra syndrome (KS), formerly known as 9q subtelomeric deletion syndrome, is characterized by multiple structural abnormalities. However, most fetuses do not have obvious abnormal phenotypes. In this study, the fetus with KS presented with multiple system structural anomalies, and we...