WDR35

Publications

Antony D et al. Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature. Eur J Med Genet. 2017;60(12):658-666 PMID: 28870638.

Caparrós-Martín JA et al. 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. Hum Mol Genet. 2015;24(14):4126-37. PMID: 25908617.

Gilissen C et al. Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. Am J Hum Genet. 2010;87(3):418-23. PMID: 20817137.

Mill P et al. Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis. Am J Hum Genet. 2011;88(4):508-15. PMID: 21473986

Tan W, Lin A, Keppler-Noreuil K. Cranioectodermal Dysplasia. 2013 Sep 12 [Updated 2021 Mar 11]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK154653/

Walczak-Sztulpa J et al. Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants in WDR35. Am J Med Genet A. 2021;185(4):1195-1203. PMID: 33421337.

Walczak-Sztulpa J et al. Prenatal genetic diagnosis of cranioectodermal dysplasia in a Polish family with compound heterozygous variants in WDR35. Am J Med Genet A. 2020;182(10):2417-2425. PMID: 32804427.

Zhang W et al. Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. Hum Mutat. 2018;39(1):152-166. PMID: 29068549.