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Heterozygous mutation of c.3521C>T in COL1A1 may cause mild osteogenesis imperfecta/Ehlers-Danlos syndrome in a Chinese family
Osteogenesis imperfecta (OI) is an inheritable connective tissue disorder with a broad clinical heterozygosis, which can be complicated by other connective tissue disorders like Ehlers-Danlos syndrome (EDS). OI/EDS are rarely documented. Most OI/EDS mutations are located in the N-anchor region of ty...
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| Publicat a: | Intractable Rare Dis Res |
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| Autors principals: | , , , , , , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
International Research and Cooperation Association for Bio & Socio-Sciences Advancement
2015
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4322595/ https://ncbi.nlm.nih.gov/pubmed/25674388 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5582/irdr.2014.01039 |
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