Ehlers-Danlos syndrome, vascular type: a novel missense mutation in the COL3A1 gene.
Masuno M, Watanabe A, Naing BT, Shimada T, Fujimoto W, Ninomiya S, Ueda Y, Kadota K, Kotaka T, Kondo E, Yamanouchi Y, Inoue M, Ouchi K, Kuroki Y.
Masuno M, et al.
Congenit Anom (Kyoto). 2012 Dec;52(4):207-10. doi: 10.1111/j.1741-4520.2011.00353.x.
Congenit Anom (Kyoto). 2012.
PMID: 23181496
We report a 34-year-old Japanese female with the vascular type of Ehlers-Danlos syndrome. She had thin translucent skin, extensive bruising, toe joint hypermobility, left lower extremity varicose veins, and chronic wrist, knee and ankle joint pain. ...
We report a 34-year-old Japanese female with the vascular type of Ehlers-Danlos syndrome. She had thin translucent skin, extensive bruising, …