Case Report: Novel compound heterozygous variants in CHRNA1 gene leading to lethal multiple pterygium syndrome: A case report

• Jianlong Zhuang,
• Junyu Wang,
• Qi Luo,
• Shuhong Zeng,
• Yu’e Chen,
• Yuying Jiang,
• Xinying Chen,
• Yuanbai Wang,
• Yingjun Xie,
• Yingjun Xie,
• Gaoxiong Wang,
• Chunnuan Chen

Affiliations

Jianlong Zhuang

Prenatal Diagnosis Center, Quanzhou Women’s and Children’s Hospital, Quanzhou, China

Junyu Wang

Prenatal Diagnosis Center, Quanzhou Women’s and Children’s Hospital, Quanzhou, China

Qi Luo

Department of Public Health for Women and Children, Quanzhou Women’s and Children’s Hospital, Quanzhou, China

Shuhong Zeng

Prenatal Diagnosis Center, Quanzhou Women’s and Children’s Hospital, Quanzhou, China

Yu’e Chen

Ultrasonography, Quanzhou Women’s and Children’s Hospital, Quanzhou, China

Yuying Jiang

Prenatal Diagnosis Center, Quanzhou Women’s and Children’s Hospital, Quanzhou, China

Xinying Chen

Prenatal Diagnosis Center, Quanzhou Women’s and Children’s Hospital, Quanzhou, China

Yuanbai Wang

Prenatal Diagnosis Center, Quanzhou Women’s and Children’s Hospital, Quanzhou, China

Yingjun Xie

Department of Obstetrics and Gynecology, Guangdong Provincial Key Laboratory of Major Obstetric Diseases, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, China

Yingjun Xie

Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, China

Gaoxiong Wang

Quanzhou Women’s and Children’s Hospital, Quanzhou, China

Chunnuan Chen

Department of Neurology, The Second Affiliated Hospital of Fujian Medical University, Quanzhou, China