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Results 1 - 7 of 9 for Blau syndrome
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  1. Blau syndrome 
    Blau syndrome is an inflammatory disorder that primarily affects the skin, joints, and eyes. Signs and symptoms begin in childhood, usually before age 4.A ...
    https://medlineplus.gov/genetics/condition/blau-syndrome - Genetics
  2. NOD2 gene 
    ... the NOD2 gene have been found to cause Blau syndrome, an inflammatory disorder that begins in childhood and ... skin, joints, and eyes that is characteristic of Blau syndrome.NOD2 gene mutations can also cause early-onset ...
    https://medlineplus.gov/genetics/gene/nod2 - Genetics
  3. Dopa-responsive dystonia 
    ... on PubMed Asmus F, Gasser T. Dystonia-plus syndromes. Eur J Neurol. 2010 Jul;17 Suppl 1:37-45. doi: 10.1111/j.1468-1331.2010.03049.x. Citation on PubMed Bonafe L, Thony B, Penzien JM, Czarnecki B, Blau N. Mutations in the sepiapterin reductase gene cause ...
    https://medlineplus.gov/genetics/condition/dopa-responsive-dystonia - Genetics
  4. Aicardi-Goutières syndrome 
    ... phenotypic spectrum of lupus erythematosus in Aicardi-Goutieres syndrome. ... E, Biancheri R, Blair EM, Blau N, Bonthron DT, Briggs T, Brueton LA, Brunner ...
    https://medlineplus.gov/.../condition/aicardi-goutieres-syndrome - Genetics
  5. TREX1 gene 
    ... cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome. Am J ... E, Biancheri R, Blair EM, Blau N, Bonthron DT, Briggs T, Brueton LA, Brunner ...
    https://medlineplus.gov/genetics/gene/trex1 - Genetics
  6. Tyrosine hydroxylase deficiency 
    ... Smith P, Ryan MM, Hoffmann GF, Donati MA, Blau N, Wevers RA. Mutations in the cyclic adenosine ...
    https://medlineplus.gov/.../tyrosine-hydroxylase-deficiency - Genetics
  7. RNASEH2A gene 
    ... Bergmann C, Bertini E, Biancheri R, Blair EM, Blau N, Bonthron DT, Briggs T, Brueton LA, Brunner ... YJ. Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet. 2007 Oct;81(4): ...
    https://medlineplus.gov/genetics/gene/rnaseh2a - Genetics