1 Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis. 57 6 61 31988067 2020 2 Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis. 6 57 Nizon M...Cormier-Daire V 22539336 2012 3 Desbuquois dysplasia type I[…]
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