Mutation of TBCE causes hypoparathyroidism– retardation–dysmorphism and autosomal recessive Kenny–Caffey syndrome

Authors: Ruti Parvari, Rafael Gorodischer, Eli Hershkovitz, Nili Grossman, Bart Loeys, Geert Mortier, Alexandra Zecic, Simon G. Gregory, Reuven Sharony, Nadia Sakati, Abdul Karim Al Humaidan, Fatma Al Zanhrani, Brian F. Meyer, Aida I. Al Aqeel, Marios Kambouris, Abdulrahman Swaid, Johara Al Othman, Aida I. Al Aqeel, Rory Weiner, Bruce D. Gelb, Rory B. Weiner, Ronald Gordon - Nature Genetics 2002 cited by 269