Severe forms of Johanson-Blizzard syndrome caused by two novel compound heterozygous variants in UBR1: clinical manifestations, imaging findings and molecular …
S Liu, Z Wang, J Jiang, X Luo, Q Hong, Y Zhang… - Pancreatology, 2020 - Elsevier
Abstract Johanson–Blizzard Syndrome (JBS) is a rare autosomal recessive genetic disorder
characterized by exocrine pancreatic insufficiency, distinct abnormal facial appearance and
varying degrees of growth retardation. Variants in UBR1 gene are considered to be
responsible for the syndrome. Here, we describe a 3-year old boy, who visited our clinic for
severe growth retardation and frequent oily diarrhea. The physical examination revealed
nasal alae aplasia, scalp defect, and maldescent of left testicle. Transabdominal ultrasound …
characterized by exocrine pancreatic insufficiency, distinct abnormal facial appearance and
varying degrees of growth retardation. Variants in UBR1 gene are considered to be
responsible for the syndrome. Here, we describe a 3-year old boy, who visited our clinic for
severe growth retardation and frequent oily diarrhea. The physical examination revealed
nasal alae aplasia, scalp defect, and maldescent of left testicle. Transabdominal ultrasound …
