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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Genes Dis
Päätekijät: Budsamongkol, Thunyaporn, Intarak, Narin, Theerapanon, Thanakorn, Yodsanga, Somchai, Porntaveetus, Thantrira, Shotelersuk, Vorasuk
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Chongqing Medical University 2019
Aiheet:
Article
Linkit: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
Tagit: Lisää tagi
Ei tageja, Lisää ensimmäinen tagi!

Samankaltaisia teoksia