Gepubliceerd in:

01-02-2013

Mutation in the CCDC114 gene causes Primary Ciliary Dyskinesia with normal fertility in the isolated Volendam population

Auteurs: T. Paff, A. Onoufriadis, D. Anthony, A. Shoemark, D. Micha, B. Kuyt, M. Schmidts, S. Petridi, J.E. Dankert-Roelse, E.G. Haarman, J.M.A. Daniels, R.D. Emes, R. Wilson, C. Hoggs, P.J. Scambler, E.M.K. Chung, H.M. Mitchison, G. Pals, UK10K

Gepubliceerd in: Tijdschrift voor Kindergeneeskunde | bijlage 1/2013

Extract

Primary ciliary dyskinesia (PCD) is a recessively inherited disorder affecting 1 per 15- 30,000 live births, with an increased frequency in some isolated populations. Patients suffer from recurrent upper –and lower respiratory infections, situs inversus (in 50% of cases) and infertility. Mutations have been identified in 15 genes, responsible for 40-50% of patients. We aimed to determine the gene defect in the large isolated PCD population with normal fertility in Volendam, The Netherlands. …

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