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Results 1 - 10 of 12 for FG syndrome 5
  1. MYH3 gene 
    ... on PubMed Central Toydemir RM, Rutherford A, Whitby FG, Jorde LB, Carey JC, Bamshad MJ. Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome. Nat Genet. 2006 May;38(5):561-5. doi: 10.1038/ng1775. Epub 2006 ...
    https://medlineplus.gov/genetics/gene/myh3 - Genetics
  2. FGFR3 gene 
    ... Bayrak-Toydemir P, Krakowiak PA, Jorde LB, Whitby FG, Longo N, Viskochil DH, Carey JC, Bamshad MJ. A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome. Am J Hum Genet. 2006 Nov;79(5):935-41. doi: 10.1086/508433. Epub 2006 ...
    https://medlineplus.gov/genetics/gene/fgfr3 - Genetics
  3. WASHC5 gene 
    ... Ontario. The WASHC5 gene variants that cause 3C syndrome affect both copies of the gene and decrease the production of the strumpellin protein. ... H, Stumpf M, Reimann J, Coras R, Morgan RO, Fernandez MP, Hofmann A, Muller S, Schoser B, Hanisch FG, Rottbauer W, Blumcke I, von Horsten S, Eichinger ...
    https://medlineplus.gov/genetics/gene/washc5 - Genetics
  4. MED12 gene 
    ... the MED12 gene have been found to cause FG syndrome, which is characterized by intellectual disability, behavioral problems, ... anal opening (imperforate anus).The mutations that cause FG syndrome each change a single protein building block (amino ...
    https://medlineplus.gov/genetics/gene/med12 - Genetics
  5. FLNA gene 
    ... This Health Condition MedlinePlus Genetics provides information about FG syndrome More About This Health Condition ABP-280 ABPX ... disorders. Eur J Hum Genet. 2006 May;14(5):549-54. doi: 10.1038/sj.ejhg.5201586. ...
    https://medlineplus.gov/genetics/gene/flna - Genetics
  6. CASK gene 
    ... This Health Condition MedlinePlus Genetics provides information about FG syndrome More About This Health Condition calcium/calmodulin-dependent ... phenotypes. Eur J Hum Genet. 2010 May;18(5):544-52. doi: 10.1038/ejhg.2009.220. ...
    https://medlineplus.gov/genetics/gene/cask - Genetics
  7. COL2A1 gene 
    ... 203. doi: 10.1016/s0039-6257(02)00460-5. Citation on PubMed Go SL, Maugeri A, Mulder ... II collagen phenotype. Arthritis Rheum. 2010 May;62(5):1421-30. doi: 10.1002/art.27354. Citation ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
  8. MAOA gene 
    ... nucleotides) is repeated, end-to-end, two to five times. Studies show that when the string of nucleotides is repeated 3.5 or four times, more monoamine oxidase A protein ...
    https://medlineplus.gov/genetics/gene/maoa - Genetics
  9. TPM2 gene 
    ... Med Genet A. 2013 Mar;161A(3):550-5. doi: 10.1002/ajmg.a.35809. Epub 2013 ... tropomyosin gene (TPM2). Neuromuscul Disord. 2009 May;19(5):348-51. doi: 10.1016/j.nmd.2009. ...
    https://medlineplus.gov/genetics/gene/tpm2 - Genetics
  10. LHCGR gene 
    ... pubic hair, between the ages of 2 and 5. The overactive receptor has no apparent effect on ... cause male pseudohermaphroditism. PLoS Med. 2008 Apr 22;5(4):e88. doi: 10.1371/journal.pmed.0050088. ...
    https://medlineplus.gov/genetics/gene/lhcgr - Genetics
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