Arterial Tortuosity sendromu
Kalıtsal - AR
Yüz uzun
Hipertelorizm
Göz kapak yapışıklıkları
Göz kapakları çekik
Gagamsı burun
Filtrum uzun
Mikrognati
Çukur damak
Hipertansiyon
Hipertrofik kardiyomyopati
Damar anomalileri
Toraks anomalileri
Herniler (çok sayıda)
Eklemler gevşek
Araknodaktili
Deri gevşek ve elastic
İskemik beyin lezyonları (stroke)
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Coucke PJ, Wessels MW, Van Acker P, et al. Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13. Journal of Medical Genetics, 40: 747-751, 2003
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Gardella R, Zoppi N, Assanelli D, et al. Exclusion of candidate genes in a family with arterial tortuosity syndrome. American Journal of Medical Genetics, 126A: 221-228, 2004
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Wessels MW, Catsman-Berrevoets CE, Mancini GMS, et al. Three new families with arterial tortuosity syndrome. American Journal of Medical Genetics, 131A: 134-143, 2004
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Callewaert BL, Willaert A, Kerstjens-Frederikse WS, et al. Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families. Human Mutation, 29: 150-158, 2008
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Faiyaz-Ul-Haque M, Zaidi SHE, Wahab AA, et al. Identification of a pSer81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families. (Letter) Clinical Genetics, 74: 189-193, 2008
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Zoppi N, Chiarelli N, Cinquina V, et al. GLUT10 deficiency leads to oxidative stress and non-canonical alpha-V/beta-3 integrin-mediated TGF-beta signaling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts. Human Molecular Genetics, 24: 6769-6787, 2015