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ID 115132
Title Alternative
Novel COL5A2 mutation in Ehlers–Danlos syndrome
Author
Watanabe, Miki Tokushima University
Kohmoto, Tomohiro 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
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departments
University Hospital
Medical Sciences