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Published in 2019 at "Orphanet Journal of Rare Diseases"
DOI: 10.1186/s13023-018-0972-6
Abstract: Achondroplasia is the most common of the skeletal dysplasias that result in marked short stature (dwarfism). Although its clinical and radiologic phenotype has been described for more than 50 years, there is still a great deal…
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Keywords:
achondroplasia comprehensive;
comprehensive clinical;
clinical review;