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Results 1 - 10 of 13 for FG syndrome 2
  1. 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
  2. CASK gene 
    ... This Health Condition MedlinePlus Genetics provides information about FG syndrome More About This Health Condition calcium/calmodulin-dependent serine protein kinase (MAGUK family) CAMGUK CMG CSKP_HUMAN hCASK LIN2 protein lin-2 homolog TNRC8 Tests of CASK PubMed CALCIUM/CALMODULIN- ...
    https://medlineplus.gov/genetics/gene/cask - Genetics
  3. ANTXR2 gene 
    ... MGC45856 Tests of ANTXR2 ... Bonaldo P, van der Goot FG. CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome. Nat Commun. 2017 Jun 12;8:15861. doi: ...
    https://medlineplus.gov/genetics/gene/antxr2 - Genetics
  4. COL2A1 gene 
    ... PubMed Cheah KS, Stoker NG, Griffin JR, Grosveld FG, Solomon E. ... syndrome: role of exon 2 of the collagen COL2A1 gene. Surv Ophthalmol. 2003 ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
  5. TPM2 gene 
    ... with beta-tropomyosin (TPM2) mutations. Neurology. 2008 Dec 2;71(23):1896-901. doi: ... cause distal arthrogryposis syndromes. Am J Hum Genet. 2003 Mar;72(3): ...
    https://medlineplus.gov/genetics/gene/tpm2 - Genetics
  6. FLNA gene 
    ... This Health Condition MedlinePlus Genetics provides information about FG syndrome More About This Health ... with pigmentary defects (TODPD) due to a recurrent filamin A (FLNA) mutation. Mol Genet Genomic Med. 2014 Nov;2(6):467-71. doi: 10.1002/mgg3.90. ...
    https://medlineplus.gov/genetics/gene/flna - Genetics
  7. NBEAL2 gene 
    ... L, Schwertz H, Christensen H, Rowley JW, Pluthero FG, Urban D, Fabbro S, Nixon B, Gadzinski R, ... Citation on PubMed
    https://medlineplus.gov/genetics/gene/nbeal2 - Genetics
  8. EFEMP2 gene 
    ... novel gene for an autosomal recessive cutis laxa syndrome. Am J Hum Genet. 2006 ... Citation on PubMed
    https://medlineplus.gov/genetics/gene/efemp2 - Genetics
  9. WASHC5 gene 
    ... MP, Hofmann A, Muller S, Schoser B, Hanisch FG, Rottbauer W, Blumcke I, von ... 8q. Am J Hum Genet. 1999 Feb;64(2):563-9. doi: 10.1086/302258. Citation on ...
    https://medlineplus.gov/genetics/gene/washc5 - Genetics
  10. MYH3 gene 
    ... 1):14. doi: 10.1186/s13023-018-0984-2. Citation on PubMed Racca AW, ... RM, Rutherford A, Whitby FG, Jorde LB, Carey JC, Bamshad MJ. Mutations in ...
    https://medlineplus.gov/genetics/gene/myh3 - Genetics
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