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Novel splice (IVS18+1G>C) mutation in COL2A1 causing Kniest dysplasia.
Al-Hashmi N, Imtiaz F, Ramzan K, Faden M, Shuaib T, Al-Otaibi L, Al-Hemidan A, Al-Owain M.
Clin Dysmorphol. 2013 Jan;22(1):39-41. doi: 10.1097/MCD.0b013e32835c297e. No abstract available.
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