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Results 1 - 5 of 5 for Rhizomelic chondrodysplasia punctata
  1. Rhizomelic chondrodysplasia punctata 
    Rhizomelic chondrodysplasia punctata is a condition that impairs the normal development of many parts of the body. The major ...
    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 ... Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype. Hum ...
    https://medlineplus.gov/genetics/gene/pex7 - Genetics
  3. GNPAT gene 
    ... the GNPAT gene have been found to cause rhizomelic chondrodysplasia punctata type 2 (RCDP2). These mutations prevent cells from ... cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2. Hum Mol Genet. 1998 May;7( ...
    https://medlineplus.gov/genetics/gene/gnpat - Genetics
  4. AGPS gene 
    ... the AGPS gene have been found to cause rhizomelic chondrodysplasia punctata type 3 (RCDP3). These mutations change single protein ...
    https://medlineplus.gov/genetics/gene/agps - Genetics
  5. Where can I read more about the diseases and traits covered in my direct-to-consumer genetic testing report?: ... 
    ... Pendred syndrome Phenylketonuria Primary hyperoxaluria Pyruvate kinase deficiency Rhizomelic chondrodysplasia punctata Sialic acid storage disease , including Salla disease Sickle ...
    https://medlineplus.gov/.../dtcgenetictesting/dtcghrpages - Genetics