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Results 1 - 5 of 5 for Rhizomelic chondrodysplasia punctata type 2
  1. Rhizomelic chondrodysplasia punctata 
    ... Rhizomelic chondrodysplasia punctata type 1 Genetic Testing Registry: Rhizomelic chondrodysplasia punctata type 2 Genetic Testing Registry: Rhizomelic chondrodysplasia punctata type 3 ...
    https://medlineplus.gov/.../rhizomelic-chondrodysplasia-punctata - Genetics
  2. GNPAT gene 
    ... the GNPAT gene have been found to cause rhizomelic chondrodysplasia punctata type 2 (RCDP2). These mutations prevent cells from making any ... cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2. Hum Mol Genet. 1998 May;7(5):847- ...
    https://medlineplus.gov/genetics/gene/gnpat - Genetics
  3. 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
  4. PEX7 gene 
    ... the PEX7 gene have been found to cause rhizomelic chondrodysplasia punctata type 1 (RCDP1). These mutations tend to be more ... Steinberg SJ, Fallatah W, Duker A, Bober MB. Rhizomelic Chondrodysplasia Punctata Type 1. 2001 Nov 16 [updated 2020 Jan 30]. ...
    https://medlineplus.gov/genetics/gene/pex7 - Genetics
  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