Low penetrance COL5A1 variants in a young patient with intracranial aneurysm and very mild signs of Ehlers-Danlos syndrome
Errichiello, Edoardo, Malara, Alessandro, Grimod, Gianluca, Avolio, Luigi, Balduini, Alessandra, Zuffardi, OrsettaJournal:
European Journal of Medical Genetics
DOI:
10.1016/j.ejmg.2020.104099
Date:
November, 2020
File:
PDF, 233 KB
2020