Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 10 of 11 for FG syndrome 1
  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. FLNA gene 
    ... This Health Condition MedlinePlus Genetics provides information about FG syndrome More About This Health Condition ABP-280 ABPX actin-binding protein 280 DKFZp434P031 filamin 1 filamin A, alpha filamin A, alpha (actin binding ...
    https://medlineplus.gov/genetics/gene/flna - Genetics
  3. FGFR3 gene 
    ... Bayrak-Toydemir P, Krakowiak PA, Jorde LB, Whitby FG, Longo N, Viskochil DH, Carey ... nigricans. Endocr Rev. 2000 Feb;21(1):23-39. doi: 10.1210/edrv.21.1. ...
    https://medlineplus.gov/genetics/gene/fgfr3 - Genetics
  4. EFEMP2 gene 
    ... novel gene for an autosomal recessive cutis laxa syndrome. Am J Hum Genet. 2006 ... JH, Keene DR, Bachinger HP, Hanisch FG, Markova D, Tsuda T, Timpl R, Chu ML, ...
    https://medlineplus.gov/genetics/gene/efemp2 - Genetics
  5. COL2A1 gene 
    ... 1; OS1 AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1; ANFH1 ... J, Meyer D, Parma S. Clinical variability of Stickler syndrome: role of exon 2 of the collagen COL2A1 ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
  6. ANTXR2 gene 
    ... extracellular collagen VI which accumulates in hyaline fibromatosis syndrome. Nat Commun. ... gene 2. EMBO J. 2012 Jan 4;31(1):3-13. doi: 10.1038/emboj.2011.442. ...
    https://medlineplus.gov/genetics/gene/antxr2 - Genetics
  7. CASK gene 
    ... This Health Condition MedlinePlus Genetics provides information ... and cerebellar hypoplasia (MICPCH). Hum Genet. 2012 Jan;131(1):99-110. doi: 10.1007/s00439-011-1047- ...
    https://medlineplus.gov/genetics/gene/cask - Genetics
  8. MAOA gene 
    ... Central Godar SC, Bortolato M, Richards SE, Li FG, Chen K, Wellman ... into Brunner syndrome and potential for targeted therapy. Clin Genet. 2016 ...
    https://medlineplus.gov/genetics/gene/maoa - Genetics
  9. TPM2 gene 
    ... cap myopathy. Biochem J. 2012 Feb 15;442(1):231-9. doi: 10.1042/BJ20111030. Citation ... K, Rutherford A, Whitby FG, Krakowiak PA, Jorde LB, Carey JC, Bamshad M. ...
    https://medlineplus.gov/genetics/gene/tpm2 - Genetics
  10. MYH3 gene 
    ... Orphanet J Rare Dis. 2019 Jan 10;14(1):14. doi: 10.1186/s13023-018-0984-2. Citation on ... RM, Rutherford A, Whitby FG, Jorde LB, Carey JC, Bamshad MJ. Mutations in ...
    https://medlineplus.gov/genetics/gene/myh3 - Genetics
previous · 1 · 2 · next