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Paper Details

Arterial tortuosity syndrome: 40 new families and literature review.
Genet Med
53
2018
ATS, Arterial tortuosity syndrome, CTGF, EF, IRDS, SLC2A10, Stenoses, TGF, aneurysm, aortic root aneurysms, arterial tortuosity syndrome, collagen, connective tissue disorder, diaphragmatic hernia, elastic fibers, elastin, gastric perforation, infant, infant respiratory distress syndrome, ischemic stroke, neonatal intracranial bleeding, pSMAD2, patients, skin, tortuosity, tortuosity of the large, vascular dissections
Author NameAffiliation
Harry C DietzJohns Hopkins University School of Medicine
Bj??rn Fischer-ZirnsakInstitute of Medical and Human Genetics, Charite-Universitatsmedizin Berlin
Xavier JeunemaitreINSERM, Universite Descartes Paris
Eric W KleeMayo Clinic
Eric W KleeCenter for Individualized Medicine, Mayo Clinic
Eric W KleeMayo Clinic
Uwe KornakInstitute of Medical and Human Genetics, Charite-Universitatsmedizin Berlin
Shehla MohammedGuy's Hospital
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