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Results 1 - 6 of 6 for Bruck syndrome 1
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  1. Kuskokwim syndrome 
    ... 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) ...
    https://medlineplus.gov/genetics/condition/kuskokwim-syndrome - Genetics
  2. FKBP10 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/fkbp10 - Genetics
  3. Felty syndrome 
    ... Hematology Am Soc Hematol Educ Program . 2017;2017(1):181-186. PMID: ... syndrome: an implication for a common pathogenesis with large ...
    https://medlineplus.gov/ency/article/000445.htm - Medical Encyclopedia
  4. NKX2-1 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/nkx2-1 - Genetics
  5. Brain-lung-thyroid syndrome 
    ... 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 ...
    https://medlineplus.gov/.../condition/brain-lung-thyroid-syndrome - Genetics
  6. CLN8 disease 
    ... 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. ...
    https://medlineplus.gov/genetics/condition/cln8-disease - Genetics