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

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Bibliographic Details
Published in:American journal of human genetics 2015-08, Vol.97 (2), p.353-353
Main Authors: Alby, Caroline, Piquand, Kevin, Huber, Céline, Megarbané, André, Ichkou, Amale, Legendre, Marine, Pelluard, Fanny, Encha-Ravazi, Ferechté, Abi-Tayeh, Georges, Bessières, Bettina, El Chehadeh-Djebbar, Salima, Laurent, Nicole, Faivre, Laurence, Sztriha, László, Zombor, Melinda, Szabó, Hajnalka, Failler, Marion, Garfa-Traore, Meriem, Bole, Christine, Nitschké, Patrick, Nizon, Mathilde, Elkhartoufi, Nadia, Clerget-Darpoux, Françoise, Munnich, Arnold, Lyonnet, Stanislas, Vekemans, Michel, Saunier, Sophie, Cormier-Daire, Valérie, Attié-Bitach, Tania, Thomas, Sophie
Format: Article
Language:English
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ISSN:0002-9297
1537-6605
DOI:10.1016/j.ajhg.2015.07.011