Clinical manifestation of Johanson-Blizzard syndrome in patient with nucleotide variants in UBR1 gene
Introduction. Johanson-Blizzard syndrome (JBS) is a very rare genetic disorder caused by a mutation of the ubiquitin protein ligase E3 component N-recognin 1 (UBR1) gene. Clinical diagnosis is based on the pathognomonic combination of congenital exocrine pancreatic insufficiency and characteristic s...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Military Health Department, Ministry of Defance, Serbia
2023-01-01
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| Series: | Vojnosanitetski Pregled |
| Subjects: | |
| Online Access: | https://doiserbia.nb.rs/img/doi/0042-8450/2023/0042-84502300003J.pdf |