Works matching DE "ACROCALLOSAL syndrome"


Results: 14
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    A large duplication involving the IHH locus mimics acrocallosal syndrome.

    Published in:
    European Journal of Human Genetics, 2012, v. 20, n. 6, p. 639, doi. 10.1038/ejhg.2011.250
    By:
    • Yuksel-Apak, Memnune;
    • Bögershausen, Nina;
    • Pawlik, Barbara;
    • Li, Yun;
    • Apak, Selcuk;
    • Uyguner, Oya;
    • Milz, Esther;
    • Nürnberg, Gudrun;
    • Karaman, Birsen;
    • Gülgören, Ayan;
    • Grzeschik, Karl-Heinz;
    • Nürnberg, Peter;
    • Kayserili, Hülya;
    • Wollnik, Bernd
    Publication type:
    Article
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    KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.

    Published in:
    Nature Genetics, 2011, v. 43, n. 6, p. 601, doi. 10.1038/ng.826
    By:
    • Putoux, Audrey;
    • Thomas, Sophie;
    • Coene, Karlien L. M.;
    • Davis, Erica E.;
    • Alanay, Yasemin;
    • Ogur, Gönül;
    • Uz, Elif;
    • Buzas, Daniela;
    • Gomes, Céline;
    • Patrier, Sophie;
    • Bennett, Christopher L.;
    • Elkhartoufi, Nadia;
    • Frison, Marie-Hélène Saint;
    • Rigonnot, Luc;
    • Joyé, Nicole;
    • Pruvost, Solenn;
    • Utine, Gulen Eda;
    • Boduroglu, Koray;
    • Nitschke, Patrick;
    • Fertitta, Laura
    Publication type:
    Article