Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

Mainzer-Saldino syndrome (MSS) is a rare disorder characterized by phalangeal cone-shaped epiphyses, chronic renal failure, and early-onset, severe retinal dystrophy. Through a combination of ciliome resequencing and Sanger sequencing, we identified IFT140 mutations in six MSS families and in a fami...

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Detalhes bibliográficos
Main Authors: Perrault, Isabelle, Saunier, Sophie, Hanein, Sylvain, Filhol, Emilie, Bizet, Albane A., Collins, Felicity, Salih, Mustafa A.M., Gerber, Sylvie, Delphin, Nathalie, Bigot, Karine, Orssaud, Christophe, Silva, Eduardo, Baudouin, Véronique, Oud, Machteld M., Shannon, Nora, Le Merrer, Martine, Roche, Olivier, Pietrement, Christine, Goumid, Jamal, Baumann, Clarisse, Bole-Feysot, Christine, Nitschke, Patrick, Zahrate, Mohammed, Beales, Philip, Arts, Heleen H., Munnich, Arnold, Kaplan, Josseline, Antignac, Corinne, Cormier-Daire, Valérie, Rozet, Jean-Michel
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2012
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Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3376548/
https://ncbi.nlm.nih.gov/pubmed/22503633
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.03.006
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