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Results 1 - 10 of 12 for FG syndrome 1
  1. FG syndrome 
    ... FG syndrome 5 Genetic Testing Registry: FG syndrome FG syndrome type 1 National Organization for Rare Disorders (NORD) OPITZ-KAVEGGIA SYNDROME; OKS FG SYNDROME 3; FGS3 FG SYNDROME 4; ...
    https://medlineplus.gov/genetics/condition/fg-syndrome - Genetics
  2. KBG syndrome 
    ... Lo-Castro A, Brancati F, Digilio MC, Garaci FG, Bollero P, Alfieri P, Curatolo P. Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations. Am J Med Genet B Neuropsychiatr Genet. 2013 Jan;162B(1):17-23. doi: 10.1002/ajmg.b.32113. ...
    https://medlineplus.gov/genetics/condition/kbg-syndrome - Genetics
  3. Distal arthrogryposis type 1 
    ... SS, Brassington AM, Grannatt K, Rutherford A, Whitby FG, Krakowiak PA, Jorde LB, Carey ... or Free article on PubMed Central
    https://medlineplus.gov/.../condition/distal-arthrogryposis-type-1 - Genetics
  4. Myhre syndrome 
    ... of SMAD4 account for both LAPS and Myhre syndromes. Am J Med Genet A. 2012 ... Murday V, Whiteford M, Dikkers FG, Sikkema-Raddatz B, van Essen T, Tolmie J. ...
    https://medlineplus.gov/genetics/condition/myhre-syndrome - Genetics
  5. Hyaline fibromatosis syndrome 
    ... novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and ... van der Goot FG. Systemic hyalinosis mutations in the CMG2 ectodomain leading ...
    https://medlineplus.gov/.../condition/hyaline-fibromatosis-syndrome - Genetics
  6. Sheldon-Hall syndrome 
    ... Spectrum of mutations that cause distal arthrogryposis types 1 and 2B. Am J Med Genet ... cause distal arthrogryposis syndromes. Am J Hum Genet. 2003 Mar;72(3): ...
    https://medlineplus.gov/genetics/condition/sheldon-hall-syndrome - Genetics
  7. Ollier disease 
    ... 22;1:37. doi: 10.1186/1750-1172-1-37. Citation on PubMed or Free article on PubMed ... syndrome: an international multicenter study of 161 patients. Oncologist. ...
    https://medlineplus.gov/genetics/condition/ollier-disease - Genetics
  8. Kallmann syndrome 
    ... 10.1371/journal.pgen.0020175. Epub 2006 Sep 1. Citation on PubMed or Free article on ... M, Debray FG, Bours V, Beckers A. Reproduction, smell, and neurodevelopmental ...
    https://medlineplus.gov/genetics/condition/kallmann-syndrome - Genetics
  9. CASK-related intellectual disability 
    ... Najm type National Organization for ... hypoplasia (MICPCH). Hum Genet. 2012 Jan;131(1):99-110. doi: 10.1007/s00439-011-1047- ...
    https://medlineplus.gov/.../cask-related-intellectual-disability - Genetics
  10. Freeman-Sheldon syndrome 
    ... syndrome. Mol Biol Cell. 2019 Jan 1;30(1):30-41. doi: 10.1091/mbc.E18-08-0526. Epub ... RM, Rutherford A, Whitby FG, Jorde LB, Carey JC, Bamshad MJ. Mutations in ...
    https://medlineplus.gov/genetics/condition/freeman-sheldon-syndrome - Genetics
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