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ID 115132
Title Alternative
Novel COL5A2 mutation in Ehlers–Danlos syndrome
Author
Watanabe, Miki Tokushima University
Kohmoto, Tomohiro Tokushima University
Goji, Aya Tokushima University
Content Type
Journal Article
Description
Ehlers–Danlos syndrome (EDS) is a group of inherited connective tissue disorders characterized by hyperextensible skin, joint hypermobility and soft tissue fragility. For molecular diagnosis, targeted exome sequencing was performed on a 9-year-old male patient who was clinically suspected to have EDS. The patient presented with progressive kyphoscoliosis, joint hypermobility and hyperextensible skin without scars. Ultimately, classical EDS was diagnosed by identifying a novel, mono-allelic mutation in COL5A2 [NM_000393.3(COL5A2_v001):c.682G>A, p.Gly228Arg].
Journal Title
Human Genome Variation
ISSN
2054345X
Publisher
Springer Nature
Volume
3
Start Page
16030
Published Date
2016-09-15
Rights
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-sa/4.0/
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DOI (Published Version)
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language
eng
TextVersion
Publisher
departments
University Hospital
Medical Sciences