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Results 1 - 10 of 40 for FG syndrome 2
  1. FG syndrome 
    ... callosum OKS Opitz-Kaveggia syndrome Genetic Testing Registry: FG syndrome 2 Genetic Testing Registry: FG syndrome 4 Genetic Testing ... FG SYNDROME 3; FGS3 FG SYNDROME 4; FGS4 FG SYNDROME 2; FGS2 FG SYNDROME 5; FGS5 PubMed Briault S, ...
    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. 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
  4. KBG syndrome 
    ... Cold Spring Harb Mol Case Stud. 2016 Nov;2(6):a001131. doi: ... phenotype observed in KBG syndrome caused by ANKRD11 mutations. Am J Med Genet ...
    https://medlineplus.gov/genetics/condition/kbg-syndrome - Genetics
  5. Hyaline fibromatosis syndrome 
    ... Superti-Furga A, Bonaldo P, van der Goot FG. CMG2/ANTXR2 regulates extracellular ... of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis ...
    https://medlineplus.gov/.../condition/hyaline-fibromatosis-syndrome - Genetics
  6. 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
  7. Distal arthrogryposis type 1 
    ... doi: 10.1093/hmg/ddp587. Epub 2010 Jan 2. Citation on PubMed or Free article ... proteins cause distal arthrogryposis syndromes. Am J Hum Genet. 2003 Mar;72(3): ...
    https://medlineplus.gov/.../condition/distal-arthrogryposis-type-1 - Genetics
  8. 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
  9. Gray platelet syndrome 
    ... JG, Gahl WA, Falik-Zaccai T. Gray platelet syndrome: natural history of a large patient ... H, Rowley JW, Pluthero FG, Urban D, Fabbro S, Nixon B, Gadzinski R, ...
    https://medlineplus.gov/genetics/condition/gray-platelet-syndrome - Genetics
  10. COL2A1 gene 
    ... ClinVar ... of Stickler syndrome: role of exon 2 of the collagen COL2A1 gene. Surv Ophthalmol. 2003 ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
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