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Results 1 - 4 of 4 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. 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
  4. 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