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Results 1 - 10 of 23 for Chitayat syndrome
  1. RASA1 gene 
    ... Hest L, Vaux KK, Vicente A, Weibel L, Chitayat D, Vikkula M. Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast- ...
    https://medlineplus.gov/genetics/gene/rasa1 - Genetics
  2. WNT5A gene 
    ... B, Seaward G; FORGE Canada Consortium; Brunner HG, Chitayat D. De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype. Clin Genet. ...
    https://medlineplus.gov/genetics/gene/wnt5a - Genetics
  3. MID1 gene 
    ... Dennis N, Odent S, Rastogi A, Liebelt J, Chitayat D, Winter R, Jawanda H, Ballabio A, Franco B, Meroni G. X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition ...
    https://medlineplus.gov/genetics/gene/mid1 - Genetics
  4. EZH2 gene 
    ... R, An J, Marra MA; FORGE Canada Consortium; Chitayat D, Boycott KM, Weaver DD, Jones SJ. Mutations in EZH2 cause Weaver syndrome. Am J Hum Genet. 2012 Jan 13;90( ...
    https://medlineplus.gov/genetics/gene/ezh2 - Genetics
  5. TP63 gene 
    ... Rotschild A, Majewski F, Beemer FA, Janecke A, Chitayat D, Crisponi G, Kayserili H, Yates JR, Neri G, Brunner HG. p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split ...
    https://medlineplus.gov/genetics/gene/tp63 - Genetics
  6. SKIC3 gene 
    ... Gissen P, Kahr WH, Knisely AS, Watson S, Chitayat D, Booth IW, Protheroe S, Murphy S, de Vries E, Kelly DA, Maher ER. Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy). Gastroenterology. 2010 Jun;138( ...
    https://medlineplus.gov/genetics/gene/skic3 - Genetics
  7. SALL4 gene 
    ... 1242/dev.02259. Citation on PubMed Kohlhase J, Chitayat D, Kotzot D, Ceylaner S, Froster UG, Fuchs S, Montgomery T, Rosler B. SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, ...
    https://medlineplus.gov/genetics/gene/sall4 - Genetics
  8. ELN gene 
    ... Riazi S, Seidl TL, Katahira J, Smoot LB, Chitayat D, Boyd CD, Hinek A. Connection between elastin haploinsufficiency and increased cell proliferation in patients with supravalvular aortic stenosis and Williams-Beuren syndrome. Am J Hum Genet. 2002 Jul;71(1): ...
    https://medlineplus.gov/genetics/gene/eln - Genetics
  9. VPS13B gene 
    ... Lacombe D, Verloes A, Chrzanowska KH, Maegawa GH, Chitayat D, Kotzot D, Huhle D, Meinecke P, Albrecht B, Mathijssen I, Leheup B, Raile K, Hennies HC, Horn D. Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome. J Med Genet. 2006 May;43(5):e22. ...
    https://medlineplus.gov/genetics/gene/vps13b - Genetics
  10. CEP57 gene 
    ... Murray A, Lane AH, Shannon N, Callier P, Chitayat D, Clayton-Smith J, Fitzpatrick DR, Gisselsson D, Jacquemont S, Asakura-Hay K, Micale MA, Tolmie J, Turnpenny PD, Wright M, Douglas J, Rahman N. Mutations in CEP57 cause mosaic variegated aneuploidy syndrome. Nat Genet. 2011 Jun;43(6):527-9. ...
    https://medlineplus.gov/genetics/gene/cep57 - Genetics
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