Radiographic examination reveals punctate epiphyseal calcifications, metaphyseal dysplasia and vertebral coronal clefts. 1 We used rabbit antisera against Agps 18 and Pex14. 17 A mouse monoclonal ...

Establishing the genetic basis of phenotypes such as skeletal dysplasia in model organisms ... swelling of the endoplasmic reticulum in epiphyseal and columnar chondrocytes in mice lacking GMAP ...

JMC is a skeletal dysplasia that is caused by mutations ... During infancy or early childhood, Jansen’s metaphyseal chondrodysplasia may be suspected. A thorough clinical evaluation ...

Supplementary information with more detailed descriptions regarding the girdle bones, metaphyseal and epiphyseal measurements can be found on this page. The methods are based on known sex and age ...