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Novel mutation in the CHST14 gene causing musculocontractural type of Ehlers-Danlos syndrome
Musculocontractural type of Ehlers-Danlos syndrome (MC-EDS) is a recently recognised connective tissue disorder. MC-EDS is caused by homozygous or compound heterozygous mutation in the carbohydrate sulfotransferase 14 (CHST14) gene on chromosome 15q15. Herein, we report a case of a 3-year-old boy wi...
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| Vydáno v: | BMJ Case Rep |
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| Hlavní autoři: | , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
BMJ Publishing Group
2018
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6157554/ https://ncbi.nlm.nih.gov/pubmed/30249733 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2018-226165 |
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