A novel compound heterozygous variant of the gene in a patient with fibrochondrogenesis type I: the first case in Korea

• Jaesung Jeon,
• Minji Kim,
• Sukdong Yoo,
• Yoomi Kim,
• Chong Kun Cheon

Affiliations

Jaesung Jeon

Department of Pediatrics, Pusan National University Children’s Hospital, Pusan National University School of Medicine, Yangsan, Korea

Minji Kim

Department of Pediatrics, Pusan National University Children’s Hospital, Pusan National University School of Medicine, Yangsan, Korea

Sukdong Yoo

Department of Pediatrics, Pusan National University Children’s Hospital, Pusan National University School of Medicine, Yangsan, Korea

Yoomi Kim

Department of Pediatrics, Chungnam National University College of Medicine, Daejeon, Korea

Chong Kun Cheon

Department of Pediatrics, Pusan National University Children’s Hospital, Pusan National University School of Medicine, Yangsan, Korea