Delineation of Ehlers-Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1 : Report on a three-generation family without cardiovascular events, and literature review-Reference-Cited by-同舟云学术

Delineation of Ehlers-Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1 : Report on a three-generation family without cardiovascular events, and literature review

Published:2016-11-07 Issue:2 Volume:173 Page:524-530
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Colombi Marina¹,Dordoni Chiara¹,Venturini Marina²,Zanca Arianna²,Calzavara-Pinton Piergiacomo²,Ritelli Marco¹

Affiliation:

1. Department of Molecular and Translational Medicine, School of Medicine, Division of Biology and Genetics; University of Brescia; Brescia Italy

2. Department of Clinical and Experimental Sciences, Division of Dermatology; Spedali Civili University Hospital; Berscia Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.38035/fullpdf

Reference27 articles.

1. Cross-sectional and longitudinal assessment of aortic root dilation and valvular anomalies in hypermobile and classic Ehlers-Danlos Syndrome;Atzinger;J Pediatr,2011

2. Ehlers-Danlos syndromes: Revised nosology, villefranche;Beighton;Am J Med Genet A,1998

3. Nosology and classification of genetic skeletal disorders: 2015 Revision;Bonafe;Am J Med Genet Part A,2015

4. Arterial rupture in classic Ehlers-Danlos syndrome with COL5A1 mutation;Borck;Am J Med Genet Part A,2010

5. Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen;Byers;Am J Med Genet A,1997

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