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Results 1 - 10 of 13 for FG syndrome
  1. 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
  2. FLNA gene 
    ... This Health Condition MedlinePlus Genetics provides information about FG syndrome More About This Health Condition ABP-280 ABPX ...
    https://medlineplus.gov/genetics/gene/flna - Genetics
  3. CASK gene 
    ... This Health Condition MedlinePlus Genetics provides information about FG syndrome More About This Health Condition calcium/calmodulin-dependent ...
    https://medlineplus.gov/genetics/gene/cask - Genetics
  4. ANTXR2 gene 
    ... Rokicki D, Dal Peraro M, van der Goot FG. In-depth analysis of hyaline fibromatosis syndrome frameshift mutations at the same site reveal the ...
    https://medlineplus.gov/genetics/gene/antxr2 - Genetics
  5. 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; ...
    https://medlineplus.gov/genetics/gene/myh3 - Genetics
  6. 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): ...
    https://medlineplus.gov/genetics/gene/fgfr3 - Genetics
  7. TPM2 gene 
    ... SS, Brassington AM, Grannatt K, Rutherford A, Whitby FG, Krakowiak PA, Jorde LB, Carey JC, Bamshad M. Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. Am J Hum Genet. 2003 Mar;72(3): ...
    https://medlineplus.gov/genetics/gene/tpm2 - Genetics
  8. NBEAL2 gene 
    ... L, Schwertz H, Christensen H, Rowley JW, Pluthero FG, Urban D, Fabbro S, ... protein, cause gray platelet syndrome. Nat Genet. 2011 Jul 17;43(8):738- ...
    https://medlineplus.gov/genetics/gene/nbeal2 - Genetics
  9. COL2A1 gene 
    ... PubMed Cheah KS, Stoker NG, Griffin JR, Grosveld FG, Solomon ... Clinical variability of Stickler syndrome: role of exon 2 of the collagen COL2A1 ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
  10. 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
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