Arterial tortuosity syndrome: 40 new families and literature review | Zendy

Aude Beyens | Zendy; Juliette Albuisson | Zendy; Annekatrien Boel | Zendy; Mazen AlEssa | Zendy; Waheed Al-Manea | Zendy; Damien Bonnet | Zendy; Özlem Bostan | Zendy; Odile Boute | Zendy; Tiffany Busa | Zendy; N Canham | Zendy; Ergün Çil | Zendy; Paul Coucke | Zendy; Margot A. Cousin | Zendy; Majed Dasouki | Zendy; Julie De Backer | Zendy; Anne De Paepe | Zendy; Sofie De Schepper | Zendy; Deepthi De Silva | Zendy; Koenraad Devriendt | Zendy; Inge De Wandele | Zendy; David R. Deyle | Zendy; Harry C. Dietz | Zendy; Sophie DupuisGirod | Zendy; Eudice E. Fontenot | Zendy; Björn FischerZirnsak | Zendy; Alper Gezdirici | Zendy; Jamal Ghoumid | Zendy; Fabienne Giuliano | Zendy; Neus Baena Díez | Zendy; Mohammed Z. Haider | Zendy; Joshua S. Hardin | Zendy; Xavier Jeunemaı̂tre | Zendy; Eric W. Klee | Zendy; Uwe Kornak | Zendy; Manuel F. Landecho | Zendy; Anne DebostLegrand | Zendy; Bart Loeys | Zendy; Stanislas Lyonnet | Zendy; Helen Michael | Zendy; Pamela Moceri | Zendy; Shehla Mohammed | Zendy; Laura Muiño Mosquera | Zendy; Sheela Nampoothiri | Zendy; Karin Pichler | Zendy; Katrina Prescott | Zendy; Anna Rajeb | Zendy; María A. RamosArroyo | Zendy; Massimiliano Rossi | Zendy; Mustafa A. Salih | Zendy; Mohammed Zain Seidahmed | Zendy; Élise Schaefer | Zendy; Elisabeth SteichenGersdorf | Zendy; Şehime Gülsün Temel | Zendy; Fahrettin Uysal | Zendy; Marine Vanhomwegen | Zendy; Lut Van Laer | Zendy; Lionel Van Maldergem | Zendy; David Warner | Zendy; Andy Willaert | Zendy; Tom R. Collins | Zendy; Andrea Taylor | Zendy; Elaine C. Davis | Zendy; Yuri A. Zárate | Zendy; Bert Callewaert | Zendy

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Arterial tortuosity syndrome: 40 new families and literature review

Author(s) -

Aude Beyens,

Juliette Albuisson,

Annekatrien Boel,

Mazen AlEssa,

Waheed Al-Manea,

Damien Bonnet,

Özlem Bostan,

Odile Boute,

Tiffany Busa,

N Canham,

Ergün Çil,

Paul Coucke,

Margot A. Cousin,

Majed Dasouki,

Julie De Backer,

Anne De Paepe,

Sofie De Schepper,

Deepthi De Silva,

Koenraad Devriendt,

Inge De Wandele,

David R. Deyle,

Harry C. Dietz,

Sophie DupuisGirod,

Eudice E. Fontenot,

Björn FischerZirnsak,

Alper Gezdirici,

Jamal Ghoumid,

Fabienne Giuliano,

Neus Baena Díez,

Mohammed Z. Haider,

Joshua S. Hardin,

Xavier Jeunemaı̂tre,

Eric W. Klee,

Uwe Kornak,

Manuel F. Landecho,

Anne DebostLegrand,

Bart Loeys,

Stanislas Lyonnet,

Helen Michael,

Pamela Moceri,

Shehla Mohammed,

Laura Muiño Mosquera,

Sheela Nampoothiri,

Karin Pichler,

Katrina Prescott,

Anna Rajeb,

María A. RamosArroyo,

Massimiliano Rossi,

Mustafa A. Salih,

Mohammed Zain Seidahmed,

Élise Schaefer,

Elisabeth SteichenGersdorf,

Şehime Gülsün Temel,

Fahrettin Uysal,

Marine Vanhomwegen,

Lut Van Laer,

Lionel Van Maldergem,

David Warner,

Andy Willaert,

Tom R. Collins,

Andrea Taylor,

Elaine C. Davis,

Yuri A. Zárate,

Bert Callewaert

Publication year - 2018

Publication title -

genetics in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.509

H-Index - 128

eISSN - 1530-0366

pISSN - 1098-3600

DOI - 10.1038/gim.2017.253

Subject(s) - medicine , elastin , pathology , diaphragmatic hernia , histology , connective tissue disorder , radiology , hernia

We delineate the clinical spectrum and describe the histology in arterial tortuosity syndrome (ATS), a rare connective tissue disorder characterized by tortuosity of the large and medium-sized arteries, caused by mutations in SLC2A10.

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