Multiple epiphyseal dysplasia with contribution of two cases with a mutation in the COMP gene

Multiple epiphyseal dysplasia (MED) is a heterogeneous group of inherited skeletal disorders characterized by abnormal development of the epiphyses. Patients with MED typically present with joint pain, stiffness, and a waddling gait, which often become symptomatic in child-hood or early adolescence...

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Detalhes bibliográficos

Principais autores:	Milka Dikova, Mihaela Blazheva, Oleg Mladenov, Darina Kachakova
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Bulgarian Orthopaedics and Trauma Association 2024-09-01
coleção:	Journal of the Bulgarian Orthopaedics and Trauma Association
Assuntos:	multiple epiphyseal dysplasia COMP delayed ossification genetic mutation joint pain
Acesso em linha:	https://jbota.org/index.php/jbota/article/view/154
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