Cranioectodermal Dysplasia, Sensenbrenner Syndrome, Is a Ciliopathy Caused by Mutations in the IFT122 Gene

Cranioectodermal dysplasia (CED) is a disorder characterized by craniofacial, skeletal, and ectodermal abnormalities. Most cases reported to date are sporadic, but a few familial cases support an autosomal-recessive inheritance pattern. Aiming at the elucidation of the genetic basis of CED, we colle...

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Bibliografiske detaljer
Main Authors: Walczak-Sztulpa, Joanna, Eggenschwiler, Jonathan, Osborn, Daniel, Brown, Desmond A., Emma, Francesco, Klingenberg, Claus, Hennekam, Raoul C., Torre, Giuliano, Garshasbi, Masoud, Tzschach, Andreas, Szczepanska, Malgorzata, Krawczynski, Marian, Zachwieja, Jacek, Zwolinska, Danuta, Beales, Philip L., Ropers, Hans-Hilger, Latos-Bielenska, Anna, Kuss, Andreas W.
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2010
Fag:
Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3032067/
https://ncbi.nlm.nih.gov/pubmed/20493458
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.04.012
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