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A novel mutation in COL2A1 leading to spondyloepiphyseal dysplasia congenita in a three-generation family

✍ Scribed by Xu, Leilei; Qiu, Xusheng; Zhu, Zezhang; Yi, Long; Qiu, Yong

Book ID: 125349332
Publisher: Springer
Year: 2014
Tongue: English
Weight: 1005 KB
Volume: 23
Category: Article
ISSN: 0940-6719
DOI: 10.1007/s00586-014-3292-0

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## Abstract Multiple epiphyseal dysplasia (MED) is a common skeletal dysplasia characterized by mild to moderate short stature, early‐onset of osteoarthritis (OA) mainly in the hip and knee joints, and abnormally small and/or irregular epiphyses. MED is clinically and genetically heterogeneous. Six