Journal Article

Novel splice (IVS18+1G>C) mutation in COL2A1 causing Kniest dysplasia

Clinical Dysmorphology (2013) 22(1) 39-41
DOI: 10.1097/MCD.0b013e32835c297e
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Al-Hashmi, N., Imtiaz, F., Ramzan, K., Faden, M., Shuaib, T., Al-Otaibi, L., … Al-Owain, M. (2013). Novel splice (IVS18+1G>C) mutation in COL2A1 causing Kniest dysplasia. Clinical Dysmorphology, 22(1), 39–41. https://doi.org/10.1097/MCD.0b013e32835c297e

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