Citations for
1CETD2, SRPS5, WDR35
Down-regulated WDR35 contributes to fetal anomaly via regulation of osteogenic differentiation.
Hu Z, Hong S, Zhang Y, Dai H, Lin S, Yi T, Zhuang H.
Gene May 20;697:48-56. doi: 10.1016/j.gene.2019.02.034. Epub 2019 Feb 18 2019
2MKKS, SDCCAG8, SLSN7, SRPS5, WDR35
Rare renal ciliopathies in non-consanguineous families that were identified by targeted resequencing.
Yamamura T, Morisada N, Nozu K, Minamikawa S, Ishimori S, Toyoshima D, Ninchoji T, Yasui M, Taniguchi-Ikeda M, Morioka I, Nakanishi K, Nishio H, Iijima K.
Clin Exp Nephrol 21(1):136-142. doi: 10.1007/s10157-016-1256-x. Epub 2016 Mar 11. 2017
3SRPS5, WDR35
Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature
Antony D, Nampoory N, Bacchelli C, Melhem M, Wu K, James CT, Beales PL, Hubank M, Thomas D, Mashankar A, Behbehani K, Schmidts M, Alsmadi O
Eur J Med Genet. Dec;60(12):658-666. doi: 10.1016/j.ejmg.2017.08.019. Epub 2017 Sep 12. 2017
4SRPS5, WDR35
Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.
Mill P, Lockhart PJ, Fitzpatrick E, Mountford HS, Hall EA, Reijns MA, Keighren M, Bahlo M, Bromhead CJ, Budd P, Aftimos S, Delatycki MB, Savarirayan R, Jackson IJ, Amor DJ.
Am J Hum Genet 88(4):508-15. 2011