Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature

Autor: Antony, Dinu, Nampoory, Narayanan, Bacchelli, Chiara, Melhem, Motasem, Wu, Kaman, James, Chela T., Beales, Philip L., Hubank, Mike, Thomas, Daisy, Mashankar, Anant, Behbehani, Kazem, Schmidts, Miriam, Alsmadi, Osama
Zdroj: In European Journal of Medical Genetics December 2017 60(12):658-666
Databáze: ScienceDirect