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Results 1 - 10 of 30 for FG syndrome 3
  1. ... 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 ...
  2. ... 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. ...
  3. ... 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 ...
  4. ... 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 ...
  5. ... 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 ...
  6. ... hyaline fibromatosis. J Dermatol Sci. 2009 Sep;55(3):197-200. doi: ... hyaline fibromatosis syndrome frameshift mutations at the same site reveal the ...
  7. ... Bayrak-Toydemir P, Krakowiak PA, Jorde LB, Whitby FG, Longo N, Viskochil DH, Carey ... 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke ...
  8. ... hyaline fibromatosis. J Dermatol Sci. 2009 Sep;55(3):197-200. doi: ... hyaline fibromatosis syndrome frameshift mutations at the same site reveal the ...
  9. ... on PubMed Central Toydemir RM, Rutherford A, Whitby FG, Jorde LB, Carey ... 2016 Mar 4. Citation on PubMed
  10. ... Clinical characteristics and natural history of Freeman-Sheldon syndrome. Pediatrics. ... RM, Rutherford A, Whitby FG, Jorde LB, Carey JC, Bamshad MJ. Mutations in ...
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