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Results 1 - 10 of 19 for Chitayat syndrome
  1. Bunion 
    ... rare genetic syndromes that affect bone development, including Chitayat syndrome and fibrodysplasia ossificans progressiva. Bunions are a complex ...
    https://medlineplus.gov/genetics/condition/bunion - Genetics
  2. Robinow syndrome 
    ... Roifman M, Brunner H, Lohr J, Mazzeu J, Chitayat D. Autosomal Dominant Robinow Syndrome. 2015 Jan 8 [updated 2019 Oct 3]. In: ... B, Seaward G; FORGE Canada Consortium; Brunner HG, Chitayat D. De novo ... syndrome suggests specificity of genotype and phenotype. Clin Genet. ...
    https://medlineplus.gov/genetics/condition/robinow-syndrome - Genetics
  3. Parkes Weber syndrome 
    ... 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/condition/parkes-weber-syndrome - Genetics
  4. Capillary malformation-arteriovenous malformation syndrome 
    ... 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/...ation-arteriovenous-malformation-syndrome - Genetics
  5. Opitz G/BBB syndrome 
    ... 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/condition/opitz-g-bbb-syndrome - Genetics
  6. Weaver syndrome 
    ... 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/condition/weaver-syndrome - Genetics
  7. Duane-radial ray syndrome 
    ... or Free article on PubMed Central 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/condition/duane-radial-ray-syndrome - Genetics
  8. Trichohepatoenteric syndrome 
    ... 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/.../condition/trichohepatoenteric-syndrome - Genetics
  9. Potocki-Lupski syndrome 
    ... Canales CP, Ruiz P, Agatep R, Yoon G, Chitayat D, Dror Y, Shago M, Goobie S, Sgro M, Walz K, Mendoza-Londono R. Definition of a critical genetic interval related to kidney abnormalities in the Potocki-Lupski syndrome. Am J Med Genet A. 2012 Jul;158A( ...
    https://medlineplus.gov/genetics/condition/potocki-lupski-syndrome - Genetics
  10. Supravalvular aortic stenosis 
    ... 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/.../condition/supravalvular-aortic-stenosis - Genetics
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