Skeletal abnormalities/short bones

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Skeletal Dysplasias: Growing Therapy for Growing Bones

Skeletal dysplasias represent a large and diverse group of rare conditions affecting collagen and bone. They can be clinically classified based on radiographic and physical features, and many can be further defined at a molecular level (Bonafe et al., 2015). Early diagnosis is critical to proper medical management including pharmacologic treatment when available. Patients with severe skeletal d...

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ژورنال

عنوان ژورنال: Genetics in Medicine

سال: 2000

ISSN: 1098-3600,1530-0366

DOI: 10.1097/00125817-200001000-00040