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Review
. 2021 Jul;46(5):987-989.
doi: 10.1111/ced.14568. Epub 2021 Mar 3.

Glycine substitution mutation of COL5A1 in classic Ehlers-Danlos syndrome: a case report and literature review

Z Gong  1 , H Wang  1 , Z Lin  1
Affiliations
Review

Glycine substitution mutation of COL5A1 in classic Ehlers-Danlos syndrome: a case report and literature review

Z Gong et al. Clin Exp Dermatol. 2021 Jul.
No abstract available

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References

    1. Bowen JM, Sobey GJ, Burrows NP et al. Ehlers-Danlos syndrome, classical type. Am J Med Genet C Semin Med Genet 2017; 175: 27-39.
    1. Ritelli M, Dordoni C, Venturini M et al. Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. Orphanet J Rare Dis 2013; 8: 58.
    1. Colombi M, Dordoni C, Venturini M et al. 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. Am J Med Genet A 2017; 173: 524-30.
    1. Richards S, Aziz N, Bale S et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015; 17: 405-24.
    1. Angwin C, Brady AF, Pope FM et al. Arterial complications in classical Ehlers-Danlos syndrome: a case series. J Med Genet 2020; 57: 769-76.

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