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Autor:
Verity Pacey, Marie Coussens, Louise Tofts, Craig F Munns, Tracy Tate, Ravi Savarirayan, Tash Pocovi, Penelope J. Ireland
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Orphanet Journal of Rare Diseases
ORPHANET JOURNAL OF RARE DISEASES
Orphanet Journal of Rare Diseases
ORPHANET JOURNAL OF RARE DISEASES
BackgroundSkeletal dysplasia are genetic disorders of cartilage and bone, characterized by impairments commonly resulting in short stature, altered movement biomechanics, pain, fatigue and reduced functional performance. While current tools quantify