Two de novo UBR1 variants in trans as a cause of Johanson-Blizzard syndrome

Two de novo UBR1 variants in trans as a cause of Johanson-Blizzard syndrome

Aims/Background. Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disease caused by pathogenic variants in the UBR1 gene. JBS is usually suspected based on characteristic anomalies, but only genetic testing provides a definitive diagnosis. Since most variants are inherited from the par...

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Bibliographic Details
Main Authors: Lukas Strych, Tomas Zavoral, Pavla Komrskova, Tomas Vanecek, Ivan Subrt
Format: Article
Language:English
Published: Palacký University Olomouc, Faculty of Medicine and Dentistry 2025-06-01
Series:Biomedical Papers
Subjects:
johanson-blizzard syndrome
ubr1 gene
novel variant
de novo
Online Access:https://biomed.papers.upol.cz/artkey/bio-202502-0004_two-de-novo-ubr1-variants-in-trans-as-a-cause-of-johanson-blizzard-syndrome.php
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https://biomed.papers.upol.cz/artkey/bio-202502-0004_two-de-novo-ubr1-variants-in-trans-as-a-cause-of-johanson-blizzard-syndrome.php

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