Johanson–Blizzard syndrome caused by novel UBR1 mutation in four Saudi patients
Article in JPGN Reports (March 2024)
The most recent citing publications are shown below. View all 10 publications that cite this research output on Dimensions.
Siblings with Imperforate anus and aplastic nasal alae: Johanson-Blizzard syndrome
Article in International Journal of Contemporary Pediatrics (July 2021)
Novel ubiquitin protein ligase E3 component N-Recognin 1 gene mutation in johanson–blizzard syndrome: Development of hypothyroidism during infancy
Article in Journal of Clinical Neonatology (January 2017)