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Results 1 - 10 of 47 for burns
  1. Burn-McKeown syndrome 
    Burn-McKeown syndrome is a disorder that is present from birth (congenital) and involves abnormalities of the nasal passages, characteristic facial features, ...
    https://medlineplus.gov/genetics/condition/burn-mckeown-syndrome - Genetics
  2. Oral-facial-digital syndrome 
    Oral-facial-digital syndrome is actually a group of related conditions that affect the development of the oral cavity (the mouth and teeth), facial features, ...
    https://medlineplus.gov/.../condition/oral-facial-digital-syndrome - Genetics
  3. TXNL4A gene 
    ... gene mutations have been identified in people with Burn-McKeown syndrome, a disorder that is present from ... heart abnormalities, and short stature. Most people with Burn-McKeown syndrome have a different genetic change in ...
    https://medlineplus.gov/genetics/gene/txnl4a - Genetics
  4. Neuroferritinopathy 
    ... NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3; NBIA3 PubMed Burn J, Chinnery PF. Neuroferritinopathy. Semin Pediatr Neurol. 2006 ... j.spen.2006.08.006. Citation on PubMed Burn J. Neuroferritinopathy: iron in the brain. Mol Cytogenet. ...
    https://medlineplus.gov/genetics/condition/neuroferritinopathy - Genetics
  5. Megacystis-microcolon-intestinal hypoperistalsis syndrome 
    ... RWW, van Ijcken WFJ, Oury JF, Rosenblatt J, Burns AJ, Tibboel D, Hofstra RMW, Alves MM. Loss- ... Bever Y, Galjart N, Wijnen RM, Tibboel D, Burns AJ, Muller F, Brooks AS, Alves MM. ACTG2 ...
    https://medlineplus.gov/...colon-intestinal-hypoperistalsis-syndrome - Genetics
  6. FTL gene 
    ... PubMed FERRITIN LIGHT CHAIN; FTL NCBI Gene ClinVar Burn J, Chinnery PF. Neuroferritinopathy. Semin Pediatr Neurol. 2006 ... Curtis A, Ince PG, Bates D, Jackson MJ, Burn J. Neuroferritinopathy: a window on the role of ...
    https://medlineplus.gov/genetics/gene/ftl - Genetics
  7. Pseudocholinesterase deficiency 
    ... impaired by kidney or liver disease, malnutrition, major burns, cancer, or certain drugs. BCHE When due to ... 20. Citation on PubMed Yen T, Nightingale BN, Burns JC, Sullivan DR, Stewart PM. Butyrylcholinesterase (BCHE) genotyping ...
    https://medlineplus.gov/.../pseudocholinesterase-deficiency - Genetics
  8. Kawasaki disease 
    ... Rare Disorders (NORD) ClinicalTrials.gov KAWASAKI DISEASE PubMed Burns JC. Kawasaki Disease update. Indian J Pediatr. 2009 ... 0b013e3181f43a4e. Citation on PubMed Onouchi Y, Gunji T, Burns JC, Shimizu C, Newburger JW, Yashiro M, Nakamura ...
    https://medlineplus.gov/genetics/condition/kawasaki-disease - Genetics
  9. Intestinal pseudo-obstruction 
    ... RWW, van Ijcken WFJ, Oury JF, Rosenblatt J, Burns AJ, Tibboel D, Hofstra RMW, Alves MM. Loss- ... H, Brouwer RW, van IJcken WF, Slivano OJ, Burns AJ, Christie CK, de Mesy Bentley KL, Brooks ...
    https://medlineplus.gov/.../condition/intestinal-pseudo-obstruction - Genetics
  10. ITPKC gene 
    ... TRISPHOSPHATE 3-KINASE C; ITPKC NCBI Gene ClinVar Burns JC. Kawasaki Disease update. Indian J Pediatr. 2009 ... 0b013e3181f43a4e. Citation on PubMed Onouchi Y, Gunji T, Burns JC, Shimizu C, Newburger JW, Yashiro M, Nakamura ...
    https://medlineplus.gov/genetics/gene/itpkc - Genetics
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