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Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome

By Caroline Alby, Kevin Piquand, Céline Huber, André Megarbané, Amale Ichkou, Marine Legendre, Fanny Pelluard, Ferechté Encha-Ravazi, Georges Abi-Tayeh, Bettina Bessières, Salima El Chehadeh-Djebbar, Nicole Laurent, Laurence Faivre, László Sztriha, Melinda Zombor, Hajnalka Szabó, Marion Failler, Meriem Garfa-Traore, Christine Bole, Patrick Nitschké, Mathilde Nizon, Nadia Elkhartoufi, Françoise Clerget-Darpoux, Arnold Munnich, Stanislas Lyonnet, Michel Vekemans, Sophie Saunier, Valérie Cormier-Daire, Tania Attié-Bitach and Sophie Thomas
Publisher: Elsevier BV
Year: 2015
DOI identifier: 10.1016/j.ajhg.2015.07.011
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Provided by: MUCC (Crossref)
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