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FG syndrome
- ... 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 ...
- ... This Health Condition MedlinePlus Genetics provides information about FG syndrome More About This Health Condition ABP-280 ABPX ...
- ... This Health Condition MedlinePlus Genetics provides information about FG syndrome More About This Health Condition calcium/calmodulin-dependent ...
- ... Rokicki D, Dal Peraro M, van der Goot FG. In-depth analysis of hyaline fibromatosis syndrome frameshift mutations at the same site reveal the ...
- ... 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; ...
- ... 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): ...
- ... 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): ...
- ... 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- ...
- ... ClinVar ... D, Parma S. Clinical variability of Stickler syndrome: role of exon 2 of the collagen COL2A1 ...
- ... 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, ...
