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

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Publicat a:Am J Hum Genet
Autors principals: 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: Artigo
Idioma:Inglês
Publicat: Elsevier 2015
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Erratum
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4573267/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2015.07.011
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