IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype.
Perrault I, Halbritter J, Porath JD, Gérard X, Braun DA, Gee HY, Fathy HM, Saunier S, Cormier-Daire V, Thomas S, Attié-Bitach T, Boddaert N, Taschner M, Schueler M, Lorentzen E, Lifton RP, Lawson JA, Garfa-Traore M, Otto EA, Bastin P, Caillaud C, Kaplan J, Rozet JM, Hildebrandt F.
Perrault I, et al. Among authors: rozet jm.
J Med Genet. 2015 Oct;52(10):657-65. doi: 10.1136/jmedgenet-2014-102838. Epub 2015 Aug 14.
J Med Genet. 2015.
PMID: 26275418
Free PMC article.