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)

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
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
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
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
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
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