A novel mutation in COL3A1 associates to vascular Ehlers–Danlos syndrome with predominant musculoskeletal involvement-Reference-Cited by-同舟云学术

A novel mutation in COL3A1 associates to vascular Ehlers–Danlos syndrome with predominant musculoskeletal involvement

Published:2021-07-28 Issue:9 Volume:9 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Ruscitti Federica¹²,Trevisan Lucia¹²^ORCID,Rosti Giulia¹²^ORCID,Gotta Fabio²,Cianflone Annalia¹²,Geroldi Alessandro¹,Origone Paola¹²,Pichiecchio Anna³⁴,Viglio Simona⁵,Iascone Maria⁶,Mandich Paola¹²^ORCID

Affiliation:

1. DINOGMI Department University of Genoa Genoa Italy

2. Medical Genetics Unit IRCCS Ospedale Policlinico San Martino Genoa Italy

3. Neuroradiology Department IRCCS Mondino Foundation Pavia Italy

4. Department of Brain and Behavioral Sciences University of Pavia Pavia Italy

5. Biochemistry Unit Department of Molecular Medicine University of Pavia Pavia Italy

6. Medical Genetics Laboratory Hospital Papa Giovanni XXIII Bergamo Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1753

Reference20 articles.

1. Electron microscopy in the diagnosis of Ehlers–Danlos syndromes: correlation with clinical and genetic investigations

2. Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome

3. The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers–Danlos syndrome

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