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Results 1 - 2 of 2 for Rhizomelic chondrodysplasia punctata type 5
  1. GNPAT gene 
    ... cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2. Hum Mol Genet. 1998 May;7(5):847-53. doi: 10.1093/hmg/7.5. ...
    https://medlineplus.gov/genetics/gene/gnpat - Genetics
  2. 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