Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families

BACKGROUND: Osteogenesis imperfecta (OI) is a heterogeneous hereditary connective tissue disorder clinically hallmarked by increased susceptibility to bone fractures. METHODS: We analyzed a cohort of 77 diagnosed OI patients from 49 unrelated Palestinian families. Next‐generation sequencing technolo...

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Bibliografiske detaljer
Udgivet i:Mol Genet Genomic Med
Main Authors: Essawi, Osama, Symoens, Sofie, Fannana, Maha, Darwish, Mohammad, Farraj, Mohammad, Willaert, Andy, Essawi, Tamer, Callewaert, Bert, De Paepe, Anne, Malfait, Fransiska, Coucke, Paul J.
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2017
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Original Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5823677/
https://ncbi.nlm.nih.gov/pubmed/29150909
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.331
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