Abstract
Johanson Blizzard syndrome is a rare autosomal recessive disorder which results from loss-of-function mutations in the UBR1 gene. The condition can be easily diagnosed by its unique facial dysmorphism along with features such as malabsorption due to exocrine pancreatic insufficiency hypothyroidism sensorineural hearing loss psychomotor and growth retardation and multiple congenital anomalies. We report a case of a male infant with two novel mutations of UBR1 gene. Early diagnosis and treatment resulted in a favourable outcome.
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
