Identification of a novel intronic variant in COL4A2 gene associated with fetal severe cerebral encephalomalacia and subdural hemorrhage

• Main Authors: Rong-Yue Sun (Author), Yue Xu (Author), Qing-Qing Huang (Author), Si-Si Hu (Author), Hua-Zhi Xu (Author), Yan-Zhao Luo (Author), Ting Zhu (Author), Jun-Hui Sun (Author), Yu-Jing Gong (Author), Mian-Mian Zhu (Author), Hong-Wei Wang (Author), Jing-Ye Pan (Author), Chao-Sheng Lu (Author), Dan Wang (Author)
• Format: Book
• Published: BMC, 2024-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Genetic variants in COL4A2 are less common than those of COL4A1 and their fetal clinical phenotype has not been well described to date. We present a fetus from China with an intronic variant in COL4A2 associated with a prenatal diagnosis of severe cerebral encephalomalacia and su...