Case Report: MYO5B Homozygous Variant c.2090+3A>T Causes Intron Retention Related to Chronic Cholestasis and Diarrhea

• Yu Zheng,
• Yuming Peng,
• Shuju Zhang,
• Hongmei Zhao,
• Weijian Chen,
• Yongjia Yang,
• Zhengmao Hu,
• Qiang Yin,
• Yu Peng

Affiliations

Yu Zheng

First Department of General Surgery & Pediatrics Research Institute of Hunan Province, Hunan Children’s Hospital, Changsha, China

Yuming Peng

First Department of General Surgery & Pediatrics Research Institute of Hunan Province, Hunan Children’s Hospital, Changsha, China

Shuju Zhang

First Department of General Surgery & Pediatrics Research Institute of Hunan Province, Hunan Children’s Hospital, Changsha, China

Hongmei Zhao

Department of Gastroenterology and Nutrition, Hunan Children’s Hospital, Changsha, China

Weijian Chen

Department of Pathology, Hunan Children’s Hospital, Changsha, China

Yongjia Yang

First Department of General Surgery & Pediatrics Research Institute of Hunan Province, Hunan Children’s Hospital, Changsha, China

Zhengmao Hu

Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, China

Qiang Yin

First Department of General Surgery & Pediatrics Research Institute of Hunan Province, Hunan Children’s Hospital, Changsha, China

Yu Peng

First Department of General Surgery & Pediatrics Research Institute of Hunan Province, Hunan Children’s Hospital, Changsha, China