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- Title
C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome.
- Authors
Arts, Heleen H; Bongers, Ernie M H F; Mans, Dorus A; van Beersum, Sylvia E C; Oud, Machteld M; Bolat, Emine; Spruijt, Liesbeth; Cornelissen, Elisabeth A M; Schuurs-Hoeijmakers, Janneke H M; de Leeuw, Nicole; Cormier-Daire, Valérie; Brunner, Han G; Knoers, Nine V A M; Roepman, Ronald
- Abstract
Sensenbrenner syndrome is a heterogeneous ciliopathy that is characterised by skeletal and ectodermal anomalies, accompanied by chronic renal failure, heart defects, liver fibrosis and other features.
- Publication
Journal of medical genetics, 2011, Vol 48, Issue 6, p390
- ISSN
1468-6244
- Publication type
Journal Article
- DOI
10.1136/jmg.2011.088864