Aicardi-Goutieres sendromu
7 fenotip (Aicardi-Goutieres sendromu 5. fenotip dışında oral bulgu yok)
Aicardi-Goutieres sendromu 5
Kalıtsal - AR
Ağızda ülserli stomatit
Eklem patolojileri
Deri kuru-kepekli
Kronik dermatitler
Psikosomatik gelişme geriliği
Hipotoni spastik görünüm
İntraserebral kalsifikasyonlar
Lökoensefalopati
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Rice GI, Bond J, Asipu A, et al. Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response. Nature Genetics, 41: 829-832, 2009
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Dale RC, Gornall H, Singh-Grewal D, et al. Familial Aicardi-Goutieres syndrome due to SAMHD1 mutations is associated with chronic arthropathy and contractures. American Jornal of Medical Genetics, 152A: 938-942, 2010
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Leshinsky-Silver E, Malinger G, Ben-Sira L, et al. A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi-Goutieres syndrome associated with mtDNA deletions. European Jornal of Human Genetics, 19: 287-292, 2011
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Adang LA, Frank DB, Gilani A, et al. Aicardi Goutieres syndrome is associated with pulmonary hypertension. Molecular Genetics & Metabolism, 125: 351-358, 2018