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Oxford University Press, Human Molecular Genetics, 14(24), p. 4126-4137, 2015

DOI: 10.1093/hmg/ddv152

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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

Journal article published in 2015 by José A. Caparros-Martin, Alessandro de Luca ORCID, François Cartault, Mona Aglan, Samia Temtamy, Ghada A. Otaify, Mennat Mehrez, María Valencia, Laura Vazquez, Jean-Luc Alessandri, Julián Nevado, Inmaculada Rueda-Arenas, Karen E. Heath ORCID, Maria Cristina Digilio, Bruno Dallapiccola and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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