Article
C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome.
Journal of medical genetics - 1 Jun 2011
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 excerpt
BACKGROUND: 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. OBJECTIVE: To identify an additional causative gene in Sensenbrenner syndrome. METHODS: Single nucleotide polymorphism array analysis and standard sequencing techniques were applied to identify the...
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