Osteogenesis imperfecta type III/Ehlers-Danlos overlap syndrome in a Chinese man

Osteogenesis imperfecta (OI) and Ehlers-Danlos syndrome (EDS) are rare genetic disorders that are typically inherited in an autosomal dominant manner. Few cases of OI/EDS overlap syndrome have been documented. Described here is a 30-year-old Chinese male with OI type III and EDS. Sequencing of genom...

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Bibliografiske detaljer
Udgivet i:Intractable Rare Dis Res
Main Authors: Lu, Yanqin, Wang, Yanzhou, Rauch, Frank, Li, Hu, Zhang, Yao, Zhai, Naixiang, Zhang, Jian, Ren, Xiuzhi, Han, Jinxiang
Format: Artigo
Sprog:Inglês
Udgivet: International Research and Cooperation Association for Bio & Socio-Sciences Advancement 2018
Fag:
Brief Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5849623/
https://ncbi.nlm.nih.gov/pubmed/29552444
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5582/irdr.2018.01010
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