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Results 1 - 10 of 10 for Chondrodysplasia punctata
  1. X-linked chondrodysplasia punctata 1 
    X-linked chondrodysplasia punctata 1 is a disorder of cartilage and bone development that occurs almost exclusively in males. Chondrodysplasia punctata ...
    https://medlineplus.gov/.../x-linked-chondrodysplasia-punctata-1 - Genetics
  2. Rhizomelic chondrodysplasia punctata 
    Rhizomelic chondrodysplasia punctata is a condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal ...
    https://medlineplus.gov/.../rhizomelic-chondrodysplasia-punctata - Genetics
  3. X-linked chondrodysplasia punctata 2 
    X-linked chondrodysplasia punctata 2 is a disorder characterized by bone, skin, and eye abnormalities. It occurs almost exclusively in females.Although ...
    https://medlineplus.gov/.../x-linked-chondrodysplasia-punctata-2 - Genetics
  4. ARSL gene 
    ... the ARSL gene are responsible for X-linked chondrodysplasia punctata 1, a disorder of bone and cartilage development ... leads to the characteristic features of X-linked chondrodysplasia punctata 1. More About This Health Condition ARSE ARSE_ ...
    https://medlineplus.gov/genetics/gene/arsl - Genetics
  5. EBP gene 
    ... gene have been found to cause X-linked chondrodysplasia punctata 2, a condition that occurs almost exclusively in ... leads to the specific features of X-linked chondrodysplasia punctata 2.Rarely, a severe form of X-linked ...
    https://medlineplus.gov/genetics/gene/ebp - Genetics
  6. PEX7 gene 
    ... PEX7 gene have been found to cause rhizomelic chondrodysplasia punctata type 1 (RCDP1). These mutations tend to be ... 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
  7. GNPAT gene 
    ... GNPAT gene have been found to cause rhizomelic chondrodysplasia punctata type 2 (RCDP2). These mutations prevent cells from ... 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
  8. AGPS gene 
    ... 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
  9. Where can I read more about the diseases and traits covered in my direct-to-consumer genetic testing report?: ... 
    ... syndrome Phenylketonuria Primary hyperoxaluria Pyruvate kinase deficiency Rhizomelic chondrodysplasia punctata Sialic acid storage disease , including Salla disease Sickle ...
    https://medlineplus.gov/.../dtcgenetictesting/dtcghrpages - Genetics
  10. Zellweger spectrum disorder 
    ... skull (fontanelles) and characteristic bone spots known as chondrodysplasia punctata that can be seen on x-ray. Affected ...
    https://medlineplus.gov/.../condition/zellweger-spectrum-disorder - Genetics