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Results 1 - 10 of 30 for FG syndrome 3
  1. FG syndrome 
    ... for Rare Disorders (NORD) OPITZ-KAVEGGIA SYNDROME; OKS FG SYNDROME 3; FGS3 FG SYNDROME 4; FGS4 FG SYNDROME 2; ... RE. Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 ...
    https://medlineplus.gov/genetics/condition/fg-syndrome - Genetics
  2. 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
  3. Sheldon-Hall syndrome 
    ... 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):681-90. doi: 10.1086/368294. Citation on ...
    https://medlineplus.gov/genetics/condition/sheldon-hall-syndrome - Genetics
  4. Distal arthrogryposis type 1 
    ... 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):681-90. doi: 10.1086/368294. Citation on ...
    https://medlineplus.gov/.../condition/distal-arthrogryposis-type-1 - Genetics
  5. 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):681-90. doi: 10.1086/368294. Citation on ...
    https://medlineplus.gov/genetics/gene/tpm2 - Genetics
  6. ANTXR2 gene 
    ... hyaline fibromatosis. J Dermatol Sci. 2009 Sep;55(3):197-200. doi: ... hyaline fibromatosis syndrome frameshift mutations at the same site reveal the ...
    https://medlineplus.gov/genetics/gene/antxr2 - Genetics
  7. FGFR3 gene 
    ... Bayrak-Toydemir P, Krakowiak PA, Jorde LB, Whitby FG, Longo N, Viskochil DH, Carey ... 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke ...
    https://medlineplus.gov/genetics/gene/fgfr3 - Genetics
  8. Hyaline fibromatosis syndrome 
    ... hyaline fibromatosis. J Dermatol Sci. 2009 Sep;55(3):197-200. doi: ... hyaline fibromatosis syndrome frameshift mutations at the same site reveal the ...
    https://medlineplus.gov/.../condition/hyaline-fibromatosis-syndrome - Genetics
  9. MYH3 gene 
    ... on PubMed Central Toydemir RM, Rutherford A, Whitby FG, Jorde LB, Carey ... 2016 Mar 4. Citation on PubMed
    https://medlineplus.gov/genetics/gene/myh3 - Genetics
  10. Freeman-Sheldon syndrome 
    ... Clinical characteristics and natural history of Freeman-Sheldon syndrome. Pediatrics. ... RM, Rutherford A, Whitby FG, Jorde LB, Carey JC, Bamshad MJ. Mutations in ...
    https://medlineplus.gov/genetics/condition/freeman-sheldon-syndrome - Genetics
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