A Novel Homozygous GALK1 Variant Combined With Cataract and Prolonged Jaundice

Affiliations

• ¹ Division of Pediatric Endocrinology & Diabetes, Department of Pediatrics, Washington University in St. Louis School of Medicine, USA.
• ² Division of Immunology, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.
• ³ Department of Medical Genetics, Tinaztepe University Faculty of Medicine, Izmir, Turkey.
• ⁴ Department of Ophthalmology, University of Health Sciences Dr. Behcet Uz Child Disease and Pediatric Surgery Training and Research Hospital, Izmir, Turkey.
• ⁵ Division of Pediatric Metabolism and Nutrition, Department of Pediatrics, University of Health Sciences Dr. Behcet Uz Child Disease and Pediatric Surgery Training and Research Hospital, Izmir, Turkey.