AI Article Synopsis
- A new missense variant of the Collagen alpha-2(V) chain gene was identified in a 14-year-old patient with classical Ehlers-Danlos syndrome (cEDS).
- The patient exhibited severe scoliosis, muscle hypotonia, and ocular issues but lacked atrophic scarring.
- This case adds to the understanding of the range of symptoms associated with cEDS.
Article Abstract
We described a novel de novo missense variant of the gene encoding Collagen alpha-2(V) chain, associated with the classical Ehlers-Danlos syndrome (cEDS) (OMIM#130010), in a 14-year-old patient who presented with congenital and severe scoliosis, muscle hypotonia, ocular manifestations, and no atrophic scaring. This case expands the phenotypic spectrum of cEDS.
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Source |
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9703103 | PMC |
| http://dx.doi.org/10.1002/ccr3.6338 | DOI Listing |
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