Diagnostic conundrums in antenatal presentation of a skeletal dysplasia with description of a heterozygous C-propeptide mutation in COL1A1 associated with a severe presentation of osteogenesis imperfecta.
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| Description | scientific article published on 23 August 2016 |
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author: Meena Balasubramanian Amaka C. Offiah Rebecca C Pollitt |
| Publication date | August 23, 2016 |
| Language | English |
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