Punktmutationssuche bei den GLI3-assoziierten Krankheitsbildern Greig Cephalopolysyndaktylie-Syndrom und Pallister-Hall-Syndrom
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Philipps-Universität Marburg
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In order to gain more insight into the mutational spectrum and the Genotype-Phanotype relation associated with the GLI3-diseases (for example Greig Cephalopolysyndaktylie-Syndrom and Pallister-Hall-Syndrom), this work reports the extension of the GLI3 mutation analysis to 24 new cases. It reports the identification of 9 novel mutations present in one of the patients GLI3 allels.
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This item has been published with the following license: In Copyright