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Arterial fragility in kyphoscoliotic Ehlers-Danlos syndrome
Pathogenic variants in the lysyl-hydroxylase-1 gene (PLOD1) are responsible for the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS). The disease is classically responsible for severe hypotonia at birth, progressive kyphoscoliosis, generalised joint hypermobility and scleral fragility. Arterial f...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | BMJ Case Rep |
|---|---|
| Prif Awduron: | , , , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
BMJ Publishing Group
2018
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| Pynciau: | |
| Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6040561/ https://ncbi.nlm.nih.gov/pubmed/29982180 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2018-224423 |
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