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

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Authors: Dinu Antony, Narayanan Nampoory, Chiara Bacchelli, Motasem Melhem, Kaman Wu, Chela T. James, Philip L. Beales, Mike Hubank, Daisy Thomas, Anant Mashankar, Kazem Behbehani, Miriam Schmidts, Osama Alsmadi

Journal title: European Journal of Medical Genetics

Journal number: 60/12

Journal publisher: Elsevier BV

Published year: 2017

Published pages: 658-666

DOI identifier: 10.1016/j.ejmg.2017.08.019

ISSN: 1769-7212