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Bruck syndrome 1
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- ... associated with another connective tissue disorder known as Bruck syndrome 1. This condition has features similar to both osteogenesis ... knees, ankles, and elbows.The mutations that cause Bruck syndrome 1 lead to the production of little to no ...
- ... Leger J, Polak M. Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case. Hum ... C, Lamont P, Bikker H, Choong CS. NKX2-1 mutations in brain-lung-thyroid syndrome: a case series of four patients. J Pediatr ...
