Condition: CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE


rs387907101 in IMPAD1 gene and CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE PMID 21549340 2011 Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP.