Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review-Reference-Cited by-同舟云学术

Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review

Published:2014-11-06 Issue:1 Volume:15 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Ritelli Marco,Chiarelli Nicola,Dordoni Chiara,Reffo Elena,Venturini Marina,Quinzani Stefano,Monica Matteo Della,Scarano Gioacchino,Santoro Giuseppe,Russo Maria Giovanna,Calzavara-Pinton Piergiacomo,Milanesi Ornella,Colombi Marina

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/article/10.1186/s12881-014-0122-5/fulltext.html

Reference41 articles.

1. Pletcher BA, Fox JE, Boxer RA, Singh S, Blumenthal D, Cohen T, Brunson S, Tafreshi P, Kahn E: Four sibs with arterial tortuosity: description and review of the literature. Am J Med Genet. 1996, 66 (2): 121-128. 10.1002/(SICI)1096-8628(19961211)66:2<121::AID-AJMG1>3.0.CO;2-U.

2. Gardella R, Zoppi N, Assanelli D, Muiesan ML, Barlati S, Colombi M: Exclusion of candidate genes in a family with arterial tortuosity syndrome. Am J Med Genet A. 2004, 126: 221-228. 10.1002/ajmg.a.20589.

3. Wessels MW, Catsman-Berrevoets CE, Mancini GM, Breuning MH, Hoogeboom JJ, Stroink H, Frohn-Mulder I, Coucke PJ, Paepe AD, Niermeijer MF, Willems PJ: Three new families with arterial tortuosity syndrome. Am J Med Genet A. 2004, 131: 134-143. 10.1002/ajmg.a.30272.

4. Coucke PJ, Willaert A, Wessels MW, Callewaert B, Zoppi N, De Backer J, Fox JE, Mancini GM, Kambouris M, Gardella R, Facchetti F, Willems PJ, Forsyth R, Dietz HC, Barlati S, Colombi M, Loeys B, De Paepe A: Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome. Nat Genet. 2006, 38: 452-457. 10.1038/ng1764.

5. Callewaert BL, Willaert A, Kerstjens-Frederikse WS, De Backer J, Devriendt K, Albrecht B, Ramos-Arroyo MA, Doco-Fenzy M, Hennekam RC, Pyeritz RE, Krogmann ON, Gillessen-kaesbach G, Wakeling EL, Nikzainal S, Francannet C, Mauran P, Booth C, Barrow M, Dekens R, Loeys BL, Coucke PJ, De Paepe AM: Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families. Hum Mutat. 2008, 29: 150-158. 10.1002/humu.20623.

Cited by 38 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Gestational exposure to air pollutants perturbs metabolic and placenta-fetal phenotype;Reproductive Toxicology;2024-09

2. Arterial Tortuosity Syndrome: Unraveling a Rare Vascular Disorder;Cureus;2023-09-08

3. Arterial tortuosity syndrome presented as nonvisualization of thoracic aorta in preoperative transthoracic echocardiogram: A case report;Radiology Case Reports;2023-09

4. Patterns of genetic mutations explored by systematic screening of patients with aortopathy and their family members;JTCVS Open;2023-09

5. Ophthalmic Manifestations of Arterial Tortuosity Syndrome: Case Series of Patient and Carriers;Cornea;2023-01-11