Condition: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY


rs1050086118 in WDR35 gene and SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY PMID 28400947 2017 Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia.

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

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 27158779 2016 The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.

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.