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Systematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variant
BACKGROUND: Ehlers Danlos Syndrome is a rare form of inherited connective tissue disorder, which primarily affects skin, joints, muscle, and blood cells. The current study aimed at finding the mutation that causing EDS type VII C also known as “Dermatosparaxis” in this family. METHODS: Through syste...
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| Pubblicato in: | BMC Musculoskelet Disord |
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| Autori principali: | , , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
BioMed Central
2016
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4754938/ https://ncbi.nlm.nih.gov/pubmed/26879370 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12891-016-0936-8 |
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