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Results 1 - 8 of 8 for Fraser syndrome 2
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  1. GRIP1 gene 
    ... the multi-PDZ domain protein GRIP1 and the Fraser syndrome protein Fras1. Nat Genet. 2004 Feb;36(2):172-7. doi: 10.1038/ng1292. Epub 2004 Jan 18. Citation on PubMed Vogel MJ, van Zon P, Brueton L, ... MM. Mutations in GRIP1 cause Fraser syndrome. J Med Genet. 2012 May;49(5):303- ...
    https://medlineplus.gov/genetics/gene/grip1 - Genetics
  2. FREM2 gene 
    ... kidneys, although the mechanism is unclear. At least two mutations in the FREM2 gene have been found to cause Fraser syndrome; these mutations are involved in a small percentage ...
    https://medlineplus.gov/genetics/gene/frem2 - Genetics
  3. CYP11B2 gene 
    ... 2008 May 29. Citation on PubMed Connell JM, Fraser R, MacKenzie ... Fardella C. Genetics of hypertensive syndrome. Horm Res. 2009;71(5):253-9. doi: ...
    https://medlineplus.gov/genetics/gene/cyp11b2 - Genetics
  4. GJB6 gene 
    ... Shimomura Y. GJB6, of which mutations underlie Clouston syndrome, is a ... Christianson AL, Fraser FC, Der Kaloustian VM, Rouleau GA. Clouston hidrotic ...
    https://medlineplus.gov/genetics/gene/gjb6 - Genetics
  5. EXT2 gene 
    ... EXT2 gene mutations associated with seizures-scoliosis-macrocephaly syndrome change single protein building blocks (amino acids) in the exostosin-2 protein. These changes reduce the amount of functional ...
    https://medlineplus.gov/genetics/gene/ext2 - Genetics
  6. EXT1 gene 
    ... 2):668-73. doi: 10.1073/pnas.97.2.668. Citation on PubMed or Free article on PubMed Central Tuysuz B, Gunes N, Alkaya DU. Trichorhinophalangeal Syndrome. 2017 Apr 20 [updated 2024 Mar 21]. In: ...
    https://medlineplus.gov/genetics/gene/ext1 - Genetics
  7. FOXC1 gene 
    ... to the eye abnormalities characteristic of Axenfeld-Rieger syndrome. In some cases, changes involving the FOXC1 protein also cause problems with development of other parts of the body. More About This Health Condition At least two mutations in the FOXC1 gene have been found ...
    https://medlineplus.gov/genetics/gene/foxc1 - Genetics
  8. SCN9A gene 
    ... seizures and as a potential modifier of Dravet syndrome. PLoS Genet. 2009 ... Dec 14;444(7121):831-2. doi: 10.1038/444831a. No abstract available. Citation ...
    https://medlineplus.gov/genetics/gene/scn9a - Genetics