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Results 1 - 6 of 6 for Rhizomelic chondrodysplasia punctata type 1
  1. Rhizomelic chondrodysplasia punctata 
    ... early adulthood.Researchers have described three types of rhizomelic chondrodysplasia punctata: type 1 (RCDP1), type 2 (RCDP2), and type 3 (RCDP3). ... Chondrodysplasia punctata, rhizomelic RCDP RCP ... chondrodysplasia punctata type 1 Genetic Testing Registry: Rhizomelic chondrodysplasia punctata type 2 ...
    https://medlineplus.gov/.../rhizomelic-chondrodysplasia-punctata - Genetics
  2. PEX7 gene 
    ... the PEX7 gene have been found to cause rhizomelic chondrodysplasia punctata type 1 (RCDP1). These mutations tend to be more severe ... analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1. Am J Hum Genet. 2002 Mar;70(3): ...
    https://medlineplus.gov/genetics/gene/pex7 - Genetics
  3. GNPAT gene 
    ... 10.1194/jlr.M400364-JLR200. Epub 2005 Feb 1. Citation on PubMed ... in rhizomelic chondrodysplasia punctata type 2. Hum Mol Genet. 1998 May;7(5): ...
    https://medlineplus.gov/genetics/gene/gnpat - Genetics
  4. 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
  5. AGPS gene 
    ... the AGPS gene have been found to cause rhizomelic chondrodysplasia punctata type 3 (RCDP3). These mutations change single protein building ...
    https://medlineplus.gov/genetics/gene/agps - Genetics
  6. Where can I read more about the diseases and traits covered in my direct-to-consumer genetic testing report?: ... 
    ... called MCAD deficiency Maple syrup urine disease Mucolipidosis type IV ... chondrodysplasia punctata Sialic acid storage disease , including Salla disease Sickle ...
    https://medlineplus.gov/.../dtcgenetictesting/dtcghrpages - Genetics