| 单词 |
spondyloepiphyseal dysplasia congenita |
| 释义 |
spondyloepiphyseal dysplasia congenita
spondyloepiphyseal dysplasia congenita An autosomal condition of neonatal onset (OMIM:183900) characterised by shortened trunk, neck and proximal extremities, barrel chest, spinal involvement, and variably accompanied by myopia and retinal detachment.
Molecular pathology
SEDC is caused by a mutation of COL2A1.See SEDC
See SEDC |
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