MACS sendromu
RIN2-sendromu
Kalıtsal -AR
Gelişme geriliği
Makrosefali
Kaba yüz yapısı (progressif kabalaşma)
Dudaklar kalın
Retrognati
Maloklüzyon
Gingival hipertrofi
Dişeti kanamaları
Dentisyon aksamaları
Alopesi
Progressif skolyoz
Deride ve eklemlerde aşırı gevşeklik (sarkma)
Pıhtılaşma bozuklukları
Hipotoni
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Basel-Vanagaite L, Sarig O, Hershkovitz D, et al. RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome. American Journal of Human Genetics, 85(2):254-263, 2009
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Morava E, Guillard M, Lefeber DJ, Wevers RA. Autosomal recessive cutis laxa syndrome revisited. European Journal of Human Genetics, 17(9):1099-1110, 2009
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Syx D, Malfait F, Van Laer L, et al. The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2). Human Genetics, 128:79–88, 2010
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Aslanger AD, Altunoğlu U, Aslanger E, et al. Newly described clinical features in two siblings with MACS syndrome and a novel mutation in RIN2. American Journal of Medical Genetics A, 164A(2):484-489, 2014