Case Report: Complete Maternal Uniparental Isodisomy of Chromosome 5 (iUPD(5)mat) With PCSK1 Nonsense Variant in an Infant With Recurrent Diarrhea

• Yanyan Qian,
• Bingbing Wu,
• Renchao Liu,
• Yulan Lu,
• Ping Zhang,
• Caihong Shao,
• Ying Huang,
• Huijun Wang

Affiliations

Yanyan Qian

Center for Molecular Medicine, National Children's Medical Center, Pediatrics Research Institute, Children's Hospital of Fudan University, Shanghai, China

Bingbing Wu

Center for Molecular Medicine, National Children's Medical Center, Pediatrics Research Institute, Children's Hospital of Fudan University, Shanghai, China

Renchao Liu

Center for Molecular Medicine, National Children's Medical Center, Pediatrics Research Institute, Children's Hospital of Fudan University, Shanghai, China

Yulan Lu

Center for Molecular Medicine, National Children's Medical Center, Pediatrics Research Institute, Children's Hospital of Fudan University, Shanghai, China

Ping Zhang

Center for Molecular Medicine, National Children's Medical Center, Pediatrics Research Institute, Children's Hospital of Fudan University, Shanghai, China

Caihong Shao

Department of Gastroenterology, Pediatric Inflammatory Bowel Disease Research Center, National Children's Medical Center, Children's Hospital of Fudan University, Shanghai, China

Ying Huang

Department of Gastroenterology, Pediatric Inflammatory Bowel Disease Research Center, National Children's Medical Center, Children's Hospital of Fudan University, Shanghai, China

Huijun Wang

Center for Molecular Medicine, National Children's Medical Center, Pediatrics Research Institute, Children's Hospital of Fudan University, Shanghai, China