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Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium

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Description scientific article
Author/s

author: Samia A Temtamy  Ghada A Otaify  Victor L Ruiz-Perez  Bruno Dallapiccola  Pleasantine Mill  Alessandro De Luca  Mona S Aglan  Karen E Heath  Pablo Lapunzina  Mennat Mehrez  Judith A Goodship  José A Caparrós-Martín 

Publication date April 23, 2015
Language English
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