Multiple epiphyseal dysplasia (MED) is a clinically variable and genetically heterogeneous
chondrodysplasia characterized by mild to moderate short stature and early onset …

Multiple epiphyseal dysplasia (MED) is a relatively common skeletal dysplasia that can
present in childhood with a variable phenotype of short stature and pain and stiffness in the …

Disruption to endochondral ossification leads to delayed and irregular bone formation and
can result in a heterogeneous group of genetic disorders known as the chondrodysplasias …

Mutations in the gene encoding matrilin-3 (MATN3), a noncollagenous extracellular matrix
protein, have been reported in a variety of skeletal diseases, including multiple epiphyseal …

Objective Mutations in matrilin 3 can result in multiple epiphyseal dysplasia (MED), a
disease characterized by delayed and irregular bone growth and early‐onset osteoarthritis …

Studies have shown that mutations in the matrilin-3 gene (MATN3) are associated with
multiple epiphyseal dysplasia (MED) and spondyloepimetaphyseal dysplasia (SEMD). We …

Matrilins are oligomeric extracellular matrix adaptor proteins mediating interactions between
collagen fibrils and other matrix constituents. All four matrilins are expressed in cartilage and …

Matrilin-3 belongs to the matrilin family of extracellular matrix (ECM) proteins and is primarily
expressed in cartilage. Mutations in the gene encoding human matrilin-3 (MATN-3) lead to …

Multiple epiphyseal dysplasia (MED) is a common skeletal dysplasia characterized by joint
pain and stiffness, delayed and irregular ossification of epiphyses, and early-onset …

Multiple epiphyseal dysplasia (MED) is characterized by pain and stiffness in joints and
delayed and irregular ossification of epiphyses. Causative mutations have been recognized …