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Results 1 - 6 of 6 for Rhizomelic chondrodysplasia "punctata," type 3
  1. Rhizomelic chondrodysplasia punctata 
    ... Rhizomelic chondrodysplasia punctata type 2 Genetic Testing Registry: Rhizomelic chondrodysplasia punctata type 3 Rhizomelic chondrodysplasia punctata Rhizomelic chondrodysplasia punctata type 1 ...
    https://medlineplus.gov/.../rhizomelic-chondrodysplasia-punctata - Genetics
  2. AGPS gene 
    ... the AGPS gene have been found to cause rhizomelic chondrodysplasia punctata type 3 (RCDP3). These mutations change single protein building blocks ( ...
    https://medlineplus.gov/genetics/gene/agps - Genetics
  3. PEX7 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/pex7 - Genetics
  4. GNPAT gene 
    ... 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. ...
    https://medlineplus.gov/genetics/gene/gnpat - Genetics
  5. Bone Diseases (National Library of Medicine)  
    Your bones help you move, give you shape and support your body. They are living tissues that rebuild constantly throughout your life. During childhood and ...
    https://medlineplus.gov/bonediseases.html - Health Topics
  6. Lipid Metabolism Disorders (National Library of Medicine)  
    Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive ...
    https://medlineplus.gov/lipidmetabolismdisorders.html - Health Topics