KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

KIF7, the human ortholog of Drosophila Costal2, is a key component of the Hedgehog signaling pathway. Here we report mutations in KIF7 in individuals with hydrolethalus and acrocallosal syndromes, two multiple malformation disorders with overlapping features that include polydactyly, brain abnormali...

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Hoofdauteurs: 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, Thauvin-Robinet, Christel, Munnich, Arnold, Cormier-Daire, Valérie, Hennekam, Raoul, Colin, Estelle, Akarsu, Nurten Ayse, Bole-Feysot, Christine, Cagnard, Nicolas, Schmitt, Alain, Goudin, Nicolas, Lyonnet, Stanislas, Encha-Razavi, Férechté, Siffroi, Jean-Pierre, Winey, Mark, Katsanis, Nicholas, Gonzales, Marie, Vekemans, Michel, Beales, Philip L, Attié-Bitach, Tania
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2011
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3674836/
https://ncbi.nlm.nih.gov/pubmed/21552264
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.826
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