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Journal Abstract Search

241 related items for PubMed ID: 28774369

  • 1. [Unusual facies with delayed development and multiple malformations in a 14-month-old boy].
    Lu T, Wang Y.
    Zhongguo Dang Dai Er Ke Za Zhi; 2017 Aug; 19(8):921-925. PubMed ID: 28774369
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  • 2. Progressive brain atrophy in Schinzel-Giedion syndrome with a SETBP1 mutation.
    Takeuchi A, Okamoto N, Fujinaga S, Morita H, Shimizu J, Akiyama T, Ninomiya S, Takanashi J, Kubo T.
    Eur J Med Genet; 2015 Aug; 58(8):369-71. PubMed ID: 26096993
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  • 3. Schinzel-Giedion syndrome: a novel case, review and revised diagnostic criteria.
    Liu WL, He ZX, Li F, Ai R, Ma HW.
    J Genet; 2018 Mar; 97(1):35-46. PubMed ID: 29666323
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  • 7. Unusual neuroradiological features in Schinzel-Giedion syndrome: a novel case.
    Lestner JM, Chong WK, Offiiah A, Kefas J, Vandersteen AM.
    Clin Dysmorphol; 2012 Jul; 21(3):152-154. PubMed ID: 22473152
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  • 12. West syndrome in a patient with Schinzel-Giedion syndrome.
    Miyake F, Kuroda Y, Naruto T, Ohashi I, Takano K, Kurosawa K.
    J Child Neurol; 2015 Jun; 30(7):932-6. PubMed ID: 25028416
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  • 14. Fryns syndrome without diaphragmatic hernia, DOOR syndrome or Fryns-like syndrome? Report on patients from Indian Ocean islands.
    Alessandri JL, Cuillier F, Malan V, Brayer C, Grondard M, Jacquemot-Dekkak L, Kieffer-Traversier M, Pierre F, Laurain C, Samperiz S, Tiran-Rajaofera I, Ramful D.
    Am J Med Genet A; 2014 Mar; 164A(3):648-54. PubMed ID: 24357154
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  • 15. Novel SETBP1 D874V adjacent to the degron causes canonical schinzel-giedion syndrome: a case report and review of the literature.
    Zheng J, Gu M, Xiao S, Li C, Mi H, Xu X.
    BMC Pediatr; 2024 May 06; 24(1):309. PubMed ID: 38711130
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  • 16. Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity?
    Mégarbané A, Al-Ali R, Choucair N, Lek M, Wang E, Ladjimi M, Rose CM, Hobeika R, Macary Y, Temanni R, Jithesh PV, Chouchane A, Sastry KS, Thomas R, Tomei S, Liu W, Marincola FM, MacArthur D, Chouchane L.
    BMC Med Genet; 2016 Jun 10; 17(1):42. PubMed ID: 27282200
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  • 18. A further patient with van Maldergem syndrome.
    Neuhann TM, Müller D, Hackmann K, Holzinger S, Schrock E, Di Donato N.
    Eur J Med Genet; 2012 Jun 10; 55(6-7):423-8. PubMed ID: 22469822
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