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Compound phenotype of osteogenesis imperfecta and Ehlers–Danlos syndrome caused by combined mutations in COL1A1 and COL5A1

Osteogenesis imperfecta (OI) is an inherited connective tissue disorder with a broad clinical spectrum that can overlap with Ehlers–Danlos syndrome (EDS). To date, patients with both OI and EDS have rarely been reported. In the present study, we investigated a family with four members, one healthy i...

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Detalhes bibliográficos
Publicado no:Biosci Rep
Main Authors: Lin, Zejia, Zeng, Jican, Wang, Xinjia
Formato: Artigo
Idioma:Inglês
Publicado em: Portland Press Ltd. 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6658722/
https://ncbi.nlm.nih.gov/pubmed/31239369
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1042/BSR20181409
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