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1 aracterized postnatally by small stature and kyphoscoliosis.
2 ve myopathy preceding chronic thoraco-lumbar kyphoscoliosis.
3 fusions and deletions with a non-progressive kyphoscoliosis.
6 in short-trunk short stature, nonprogressive kyphoscoliosis, and radiological features of multiple he
8 of clinical phenotypes including progressive kyphoscoliosis, joint hypermobility, hypotonia, hyperela
10 or this mutation exhibited a fully penetrant kyphoscoliosis phenotype which became progressively wors