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Results 1 - 10 of 11 for FG syndrome 4
  1. MED12 gene 
    ... recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. Nat Genet. 2007 Apr;39(4):451-3. ... A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome). Clin Genet. 2011 Feb;79(2):183-8. ...
    https://medlineplus.gov/genetics/gene/med12 - Genetics
  2. MYH3 gene 
    ... on PubMed Toydemir RM, Bamshad MJ. Sheldon-Hall syndrome. Orphanet J Rare Dis. 2009 Mar 23;4:11. doi: 10.1186/1750-1172-4-11. Citation on PubMed or Free article on PubMed Central Toydemir RM, Rutherford A, Whitby FG, Jorde LB, Carey JC, Bamshad MJ. Mutations in ...
    https://medlineplus.gov/genetics/gene/myh3 - Genetics
  3. FGFR3 gene 
    ... in different components of FGF signaling in LADD syndrome. Nat Genet. 2006 Apr;38(4):414-7. doi: 10.1038/ng1757. Epub 2006 Feb 26. Citation on PubMed Toydemir RM, Brassington AE, Bayrak-Toydemir P, Krakowiak PA, Jorde LB, Whitby FG, Longo N, Viskochil DH, Carey JC, Bamshad MJ. ...
    https://medlineplus.gov/genetics/gene/fgfr3 - Genetics
  4. NBEAL2 gene 
    ... Gahl WA. NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of ... H, Rowley JW, Pluthero FG, Urban D, Fabbro S, Nixon B, Gadzinski R, ...
    https://medlineplus.gov/genetics/gene/nbeal2 - Genetics
  5. ANTXR2 gene 
    ... extracellular collagen VI which accumulates in hyaline fibromatosis syndrome. Nat ... Hum Mutat. 2009 Apr;30(4):583-9. doi: 10.1002/humu.20872. Citation ...
    https://medlineplus.gov/genetics/gene/antxr2 - Genetics
  6. EFEMP2 gene 
    ... KH, Angle B, Marmorstein LY, Urban Z. Fibulin-4: a novel gene for an autosomal ... JH, Keene DR, Bachinger HP, Hanisch FG, Markova D, Tsuda T, Timpl R, Chu ML, ...
    https://medlineplus.gov/genetics/gene/efemp2 - Genetics
  7. FLNA gene 
    ... This Health Condition MedlinePlus Genetics provides information about FG ... Feb;1843(2):234-44. doi: 10.1016/j.bbamcr.2013.10.022. Epub 2013 Nov 4. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/genetics/gene/flna - Genetics
  8. CASK gene 
    ... This Health Condition MedlinePlus Genetics provides information about ... and mental retardation. Ann Neurol. 2009 Oct;66(4):438-43. doi: 10.1002/ana.21755. Citation ...
    https://medlineplus.gov/genetics/gene/cask - Genetics
  9. LHCGR gene 
    ... Condition MedlinePlus Genetics provides information about Polycystic ... Qiao J, Han B, Liu BL, Chen X, Ru Y, Cheng KX, Chen FG, Zhao SX, Liang J, Lu YL, Tang JF, ...
    https://medlineplus.gov/genetics/gene/lhcgr - Genetics
  10. MAOA gene 
    ... children. Science. 2002 Aug 2;297(5582):851-4. doi: 10.1126/science.1072290. ... into Brunner syndrome and potential for targeted therapy. Clin Genet. 2016 ...
    https://medlineplus.gov/genetics/gene/maoa - Genetics
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