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Results 1 - 10 of 11 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. 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
  3. 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
  4. 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
  5. 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
  6. Kallmann syndrome 
    ... prokineticin receptor-2. PLoS Genet. 2006 Oct 20;2(10):e175. doi: ... M, Debray FG, Bours V, Beckers A. Reproduction, smell, and neurodevelopmental ...
    https://medlineplus.gov/genetics/condition/kallmann-syndrome - Genetics
  7. Myhre syndrome 
    ... Am J Med Genet A. 2020 Feb;182(2):328-337. doi: 10.1002/ajmg.a.61430. Epub 2019 ... Murday V, Whiteford M, Dikkers FG, Sikkema-Raddatz B, van Essen T, Tolmie J. ...
    https://medlineplus.gov/genetics/condition/myhre-syndrome - Genetics
  8. Freeman-Sheldon syndrome 
    ... 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/condition/freeman-sheldon-syndrome - Genetics
  9. Maffucci syndrome 
    ... M. Maffucci syndrome. Indian Pediatr. 2007 Feb;44(2):149-50. No abstract ... A, Klenke FM, Gouin FG, Campanacci DA, Marec-Berard P, Hogendoorn PC, Brand ...
    https://medlineplus.gov/genetics/condition/maffucci-syndrome - Genetics
  10. 3-hydroxy-3-methylglutaryl-CoA lyase deficiency 
    ... chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during ... Arabian mutation, R41Q. Am J Hum Genet. 1998 Feb;62(2):295-300. doi: 10.1086/301730. Citation on ...
    https://medlineplus.gov/...oxy-3-methylglutaryl-coa-lyase-deficiency - Genetics
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