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

Title
Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature
Authors
Keywords
Ciliary chondrodysplasias, Exome sequencing
Journal
European Journal of Medical Genetics
Volume 60, Issue 12, Pages 658-666
Publisher
Elsevier BV
Online
2017-09-12
DOI
10.1016/j.ejmg.2017.08.019

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