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Journal Abstract Search


128 related items for PubMed ID: 12605442

  • 1. Cranio-cerebello-cardiac (3C) syndrome: follow-up study of the original patient.
    Zankl A, Güngör T, Schinzel A.
    Am J Med Genet A; 2003 Apr 01; 118A(1):55-9. PubMed ID: 12605442
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  • 2. [A phenotypic description of 26 patients with Ritscher-Schinzel syndrome (cranio-cerebello-cardiac dysplasia or 3C syndrome)].
    Pira-Paredes SM, Montoya-Villada JH, Franco-Restrepo JL, Moncada-Velez M, Cornejo JW.
    Rev Neurol; 2017 Jun 01; 64(11):481-488. PubMed ID: 28555453
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  • 4. The 3C syndrome: evolution of the phenotype and growth hormone deficiency.
    Wheeler PG, Sadeghi-Nejad A, Elias ER.
    Am J Med Genet; 1999 Nov 05; 87(1):61-4. PubMed ID: 10528249
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  • 5. Ritscher-Schinzel (cranio-cerebello-cardiac, 3C) syndrome: report of four new cases with renal involvement.
    Seidahmed MZ, Alkuraya FS, Shaheed M, Al Zahrani M, Al Manea W, Mansour F, Mustafa T, Farid G, Salih MA.
    Am J Med Genet A; 2011 Jun 05; 155A(6):1393-7. PubMed ID: 21567916
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  • 9. Sibs with Ritscher-Schinzel (3C) syndrome and anal malformations.
    Orstavik KH, Bechensteen AG, Fugelseth D, Orderud W.
    Am J Med Genet; 1998 Jan 23; 75(3):300-3. PubMed ID: 9475602
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  • 11. Delineating the CCDC22-related Ritscher-Schinzel syndrome phenotype in the original family.
    Rodgers J, Richmond CM, McGaughran J.
    Am J Med Genet A; 2022 Nov 23; 188(11):3324-3330. PubMed ID: 36073196
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  • 12. Biallelic VPS35L pathogenic variants cause 3C/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex.
    Kato K, Oka Y, Muramatsu H, Vasilev FF, Otomo T, Oishi H, Kawano Y, Kidokoro H, Nakazawa Y, Ogi T, Takahashi Y, Saitoh S.
    J Med Genet; 2020 Apr 23; 57(4):245-253. PubMed ID: 31712251
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  • 15. Ritscher-Schinzel cranio-cerebello-cardiac syndrome.
    Herman TE, Siegel MJ.
    J Perinatol; 2008 Oct 23; 28(10):715-8. PubMed ID: 18825150
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  • 18. Does the cranio-cerebello-cardiac syndrome (3C syndrome) include abdominal malformations?
    Mégarbané A, Haddad J.
    Clin Dysmorphol; 1999 Oct 23; 8(4):305-7. PubMed ID: 10532184
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