Prenatal diagnosis identifies compound heterozygous variants in RYR1 that causes ultrasound abnormalities in a fetus

• Main Authors: Qiuling Zhao (Author), Xiaoduo Li (Author), Li Liu (Author), Xu Zhang (Author), Xin Pan (Author), Hong Yao (Author), Yongyi Ma (Author), Bo Tan (Author)
• Format: Book
• Published: BMC, 2022-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Objective We presented a non-consanguineous healthy Chinese couple with five pregnancies, three early miscarriages, the fetus II-2 and II-5 with similar abnormal phenotypes of fetal hydrops, scoliosis, fetal akinesia and polyhydramnios. This study aimed to uncover the molecular etiology of...