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Blau syndrome
Did you mean blue 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 ...
- ... 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 ...
- Skin Conditions (National Library of Medicine)What does your skin do? Your skin is your body's largest organ. It covers the entire outside of your body. There are many ways that your skin protects ...
- Eye Diseases (National Library of Medicine)What diseases can affect the eye? Even if your eyes feel healthy, you could have a problem and not know it. That's why regular eye exams are so important. ...
- Arthritis (National Library of Medicine)What is arthritis? If you feel pain and stiffness in your body or have trouble moving around, you might have arthritis. Any disorder that affects the ...
- ... 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 ...
- ... phenotypic spectrum of lupus erythematosus in Aicardi-Goutieres syndrome. ... E, Biancheri R, Blair EM, Blau N, Bonthron DT, Briggs T, Brueton LA, Brunner ...
- ... 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 ...
- ... Smith P, Ryan MM, Hoffmann GF, Donati MA, Blau N, Wevers RA. Mutations in the cyclic adenosine ...
- ... 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): ...