Article
Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies.
Pediatric nephrology (Berlin, Germany) - 1 Aug 2014
Fehrenbach Henry, Decker Christian, Eisenberger Tobias, Frank Valeska, Hampel Tobias, Walden Ulrike, Amann Kerstin U, Krüger-Stollfuß Ingrid, Bolz Hanno J, Häffner Karsten, Pohl Martin, Bergmann Carsten
Abstract excerpt
BACKGROUND: An emerging number of clinically and genetically heterogeneous diseases now collectively termed ciliopathies have been connected to the dysfunction of primary cilia. We describe an 8-year-old girl with a complex phenotype that did not clearly match any familiar syndrome. CASE-DIAGNOSIS/TREATMENT: Hypotonia, facial dysmorphism and retardation were noted shortly after birth. Other features included...
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