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An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing

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Description scientific article published on 22 January 2016
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author: Björn Fischer-Zirnsak  Denise Horn  Stefan Mundlos 

Publication date January 22, 2016
Language English
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