Patient with the vascular type of Ehlers-Danlos syndrome, with a novel point-mutation in the COL3A1 gene
J Dermatol
.
2013 Mar;40(3):226-8.
doi: 10.1111/1346-8138.12057.
Epub 2013 Jan 7.
Authors
Yayoi Shimaoka
,
Shujiro Hayashi
,
Yoichiro Hamasaki
,
Keita Terui
,
Atsushi Hatamochi
PMID:
23293852
DOI:
10.1111/1346-8138.12057
No abstract available
Publication types
Case Reports
Letter
MeSH terms
Adolescent
Collagen Type III / genetics*
Ehlers-Danlos Syndrome / genetics*
Female
Humans
Point Mutation
Vascular Diseases / genetics
Substances
COL3A1 protein, human
Collagen Type III