Condition: CRANIOECTODERMAL DYSPLASIA 2


rs199952377 in WDR35 gene and CRANIOECTODERMAL DYSPLASIA 2 PMID 25914204 2015 Respiratory motile cilia dysfunction in a patient with cranioectodermal dysplasia.

PMID 22486404 2013 Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome).

PMID 28332779 2017 Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations.

PMID 20817137 2010 Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome.

PMID 21473986 2011 Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.

PMID 29068549 2018 Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.

PMID 25908617 2015 Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium.

PMID 28870638 2017 Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature.