A novel mutation in COL1A2 leads to osteogenesis imperfecta/Ehlers-Danlos overlap syndrome with brachydactyly

Osteogenesis imperfecta (OI) is mainly characterized by bone fragility and Ehlers-Danlos syndrome (EDS) by connective tissue defects. Mutations in COL1A1 or COL1A2 can lead to both syndromes. OI/EDS overlap syndrome is mostly caused by helical mutations near the amino-proteinase cleavage site of typ...

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Publicado no:Genes Dis
Main Authors: Budsamongkol, Thunyaporn, Intarak, Narin, Theerapanon, Thanakorn, Yodsanga, Somchai, Porntaveetus, Thantrira, Shotelersuk, Vorasuk
Formato: Artigo
Idioma:Inglês
Publicado em: Chongqing Medical University 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6545454/
https://ncbi.nlm.nih.gov/pubmed/31193991
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.gendis.2019.03.001
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