Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome
scientific article published on 9 July 2015
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author: Stanislas Lyonnet, Valérie Cormier-Daire, Patrick Nitschké, Tania Attié-Bitach, Françoise Clerget-Darpoux, Celine Huber, Sophie Saunier, Arnold Munnich, Sophie Thomas, Michel Vekemans, Marine Legendre, Bettina Bessières, Nadia Elkhartoufi, Ferechté Encha-Ravazi, Amale Ichkou, Caroline Alby, Christine Bôle-Feysot, Mathilde Nizon
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