Homeotic Arm-to-Leg Transformation Associated with Genomic Rearrangements at the PITX1 Locus

The study of homeotic-transformation mutants in model organisms such as Drosophila revolutionized the field of developmental biology, but how these mutants relate to human developmental defects remains to be elucidated. Here, we show that Liebenberg syndrome, an autosomal-dominant upper-limb malform...

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Detalhes bibliográficos
Main Authors: Spielmann, Malte, Brancati, Francesco, Krawitz, Peter M., Robinson, Peter N., Ibrahim, Daniel M., Franke, Martin, Hecht, Jochen, Lohan, Silke, Dathe, Katarina, Nardone, Anna Maria, Ferrari, Paola, Landi, Antonio, Wittler, Lars, Timmermann, Bernd, Chan, Danny, Mennen, Ulrich, Klopocki, Eva, Mundlos, Stefan
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2012
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3484647/
https://ncbi.nlm.nih.gov/pubmed/23022097
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.08.014
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