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Results 1 - 7 of 7 for Grant syndrome
  1. TUBB3 gene 
    ... SL, Crowley WF Jr, Jabs EW, Hunter DG, Grant PE, Engle EC. A novel syndrome caused by the E410K amino acid substitution in ... on PubMed or Free article on PubMed Central Grant PE, Im K, ... Organization in the TUBB3 E410K Syndrome. Cereb Cortex. 2019 Jul 22;29(8):3561- ...
    https://medlineplus.gov/genetics/gene/tubb3 - Genetics
  2. FGFR1 gene 
    ... Dwyer AA, Hughes VA, Yialamas M, Hall JE, Grant E, Mohammadi M, Crowley WF Jr. Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism. Proc Natl Acad ...
    https://medlineplus.gov/genetics/gene/fgfr1 - Genetics
  3. FTL gene 
    ... Craig JE, Clark JB, McLeod JL, Kirkland MA, Grant G, Elder JE, Toohey MG, Kowal L, Savoia HF, Chen C, Roberts S, Wirth MG, Mackey DA. Hereditary hyperferritinemia-cataract syndrome: prevalence, lens morphology, spectrum of mutations, and clinical ...
    https://medlineplus.gov/genetics/gene/ftl - Genetics
  4. WT1 gene 
    ... M, Kelehan P, O'neill D, Vadeyar S, Grant J, Ahmed SF, Tolmie J, McCann E, Lam W, Smith S, Fitzpatrick D, Hastie ND, Reardon W. WT1 mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac ...
    https://medlineplus.gov/genetics/gene/wt1 - Genetics
  5. NLRP3 gene 
    ... Y, Szczepanik M, Lara-Tejero M, Lichtenberger GS, Grant EP, Bertin J, Coyle AJ, Galan JE, Askenase ... Diagnosis and Management of the Cryopyrin-Associated Periodic Syndromes (CAPS): What Do We Know Today? J Clin ...
    https://medlineplus.gov/genetics/gene/nlrp3 - Genetics
  6. MAOA gene 
    ... sj.npp.1300455. Citation on PubMed Kuepper Y, Grant P, Wielpuetz C, Hennig J. MAOA-uVNTR genotype ... Gecz J, Field M. New insights into Brunner syndrome and potential for targeted therapy. Clin Genet. 2016 ...
    https://medlineplus.gov/genetics/gene/maoa - Genetics
  7. SUOX gene 
    ... Hoda S, Lee MS, Baris H, Hanley CA, Grant PE, Krishnamoorthy KS, Shih VE. Isolated sulfite oxidase ...
    https://medlineplus.gov/genetics/gene/suox - Genetics