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American Journal of Medical Genetics Part A
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Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype.
American Journal of Human Genetics
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The natural history and osteodystrophy of mucolipidosis types II and III.
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Premature arthritis is a distinct type II collagen phenotype.
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SEXTON, A, FURMEDGE, J, BARNES, C, CHEETHAM, G, WALLACE, J, SAVARIRAYAN, R.
Clinical significance of two mutations in the factor IX gene in a family with haemophilia B.
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