chondrodysplasia punctata X-linked recessive type 1

chondrodysplasia punctata X-linked recessive type 1

A clinically and genetically heterogeneous disorder of bone and cartilage development (OMIM:302950), which is characterised by punctate calcification of the bones, aberrant bone mineralisation, severe underdevelopment of nasal cartilage and distal phalangeal hypoplasia. CDPX1 can also be induced by inhibition with warfarin.
 
Molecular pathology
Defects in ARSE, which encodes arylsulfatase E, cause chondrodysplasia punctata X-linked recessive type 1.
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