Abnormal skeletal growth in Kniest dysplasia caused by type II collagen mutations.

Abstract excerpt

Two unrelated patients with Kniest dysplasia had the same substitution of a CG dinucleotide in exon 12 of the COL2A1 gene that resulted in alternative splicing and interruption of the triple helix of a1(II) chains of Type II collagen. In early childhood, they shared the typical clinical and radiographic features of Kniest dysplasia. However, one child was affected more severely from birth and showed progressive...

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