A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan.
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S. Nelson | B. Merriman | D. Rimoin | D. Krakow | V. Funari | D. Cohn | R. Lachman | S. Tompson | M. Briggs | M. Fresquet
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