Browsing by Author "Mcheik, Jiad N."
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Mutations in the Human UBR1 Gene and the Associated Phenotypic Spectrum
Sukalo, Maja; Fiedler, Ariane; Guzman, Celina; Spranger, Stephanie; Addor, Marie-Claude; Mcheik, Jiad N.; Alrajoudi, Abdullah (Wiley, 2014)Johanson-Blizzard syndrome (JBS) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, dental anomalies, hypothyroidism, sensorineural hearing loss, scalp ...