Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP.
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Am J Hum Genet. 2011 May 13;88(5):608-15. doi: 10.1016/j.ajhg.2011.04.002. Epub 2011 May 5.
Am J Hum Genet. 2011.
PMID: 21549340
Free PMC article.