Chondrodysplasia with joint dislocations, GPAPP type
Definition:
Chondrodysplasia with joint dislocations, GPAPP type is characterized by short stature, chondrodysplasia with brachydactyly, congenital joint dislocations, cleft palate, and facial dysmorphism. It is caused by mutations in IMPAD1, the gene encoding Golgi-resident PAP phosphatase (gPAPP). IMPAD1 inactivation has been shown to produce chondrodysplasia with abnormal joint formation and impaired proteoglycan sulfation.
References:
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[1]. Lisenka E L M Vissers, et al. Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP. Am J Hum Genet. 2011 May 13;88(5):608-15. [Content Brief]
[2]. Mathilde Nizon, et al. IMPAD1 mutations in two Catel-Manzke like patients. Am J Med Genet A. 2012 Sep;158A(9):2183-7. [Content Brief]
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