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Rhizomelic chondrodysplasia punctata type 3
- ... Rhizomelic chondrodysplasia punctata type 2 Genetic Testing Registry: Rhizomelic chondrodysplasia punctata type 3 Rhizomelic chondrodysplasia punctata Rhizomelic chondrodysplasia punctata type 1 ...
- ... the AGPS gene have been found to cause rhizomelic chondrodysplasia punctata type 3 (RCDP3). These mutations change single protein building blocks ( ...
- ... analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1. Am J Hum Genet. 2002 Mar;70(3):612-24. doi: 10.1086/338998. Epub 2002 ...
- ... cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia ... Biophys Res Commun. 2001 Mar 2;281(3):754-60. doi: 10.1006/bbrc.2001.4407. ...