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Bruck syndrome 1
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- ... and symptoms of the condition. Arthrogryposis-like syndrome Bruck syndrome 1 Kuskokwim disease Genetic Testing Registry: Bruck syndrome 1 Kuskokwim syndrome National Organization for Rare Disorders (NORD) ...
- ... 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 ...
- ... on PubMed Reinhardt K, Grapp M, Schlachter K, Bruck W, Gartner J, Steinfeld R. Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis. Clin Genet. 2010 Jan;77(1):79-85. doi: 10.1111/j.1399-0004. ...