Results 1 -
10
of
21
for
FG syndrome 3
- ... 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 ...
- ... 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. ...
- ... 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 ...
- ... 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 ...
- ... 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 ...
- ... hyaline fibromatosis. J Dermatol Sci. 2009 Sep;55(3):197-200. doi: ... hyaline fibromatosis syndrome frameshift mutations at the same site reveal the ...
- ... hyaline fibromatosis. J Dermatol Sci. 2009 Sep;55(3):197-200. doi: ... hyaline fibromatosis syndrome frameshift mutations at the same site reveal the ...
- ... Bayrak-Toydemir P, Krakowiak PA, Jorde LB, Whitby FG, Longo N, Viskochil DH, Carey ... 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke ...
- ... on PubMed Central Toydemir RM, Rutherford A, Whitby FG, Jorde LB, Carey ... 2016 Mar 4. Citation on PubMed
- ... C Semin Med Genet. 2012 Aug 15;160C(3):154-64. doi: 10.1002/ajmg.c.31331. Epub ... syndrome: an international multicenter study of 161 patients. Oncologist. ...