Case report: identification of one frameshift variant and two in cis non-canonical splice variants of NEB gene in prenatal arthrogryposis

• Yuefang Liu,
• Juan Xu,
• Qiaoyi Lv,
• Zhe Liang,
• Lingling Li,
• Qiong Pan

Affiliations

Yuefang Liu

Genetic and Prenatal Diagnosis Center, Huai’an Maternity and Child Clinical College of Xuzhou Medical University, Huai’an, China

Juan Xu

Clinical Medical College, Yangzhou University, Yangzhou, China

Qiaoyi Lv

School of Medicine, Jiangsu University, Zhenjiang, China

Zhe Liang

Genetic and Prenatal Diagnosis Center, Huai’an Maternity and Child Clinical College of Xuzhou Medical University, Huai’an, China

Lingling Li

Family Planning Department, Huai’an Maternity and Child Clinical College of Xuzhou Medical University, Huai’an, China

Qiong Pan

Genetic and Prenatal Diagnosis Center, Huai’an Maternity and Child Clinical College of Xuzhou Medical University, Huai’an, China