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pro vyhledávání: '"Andreia Pitno"'
Autor:
Mahmoud R. Fassad, Andreia Pitno, Heba Morsy, Luísa Pereira, Carolina Constant, Nader Fasseeh, James A. Thompson, Paul Aurora, Claire L. Jackson, Andrew Rutman, Nisreen Rumman, Walaa I. Shoman, Robert A. Hirst, Amelia Shoemark, Susana S. Lopes, Hannah M. Mitchison, Christopher M. Watson, Priti Kenia, C. Hogg, Eduardo Moya, Jane S. Lucas, Christopher O'Callaghan, Lucy Jenkins, Robert Wilson, Sarah Ollosson, Patricia Goggin, Siobhán B. Carr, Mellisa Dixon, Philip Chetcuti, Michael R. Loebinger, Jane Hayward, Woolf T. Walker, Deborah J. Morris-Rosendahl, Andrew V. Rogers, Thomas Cullup, Mitali P. Patel, Eddie M.K. Chung
Publikováno v:
Journal of medical genetics. 57(5)
BackgroundPrimary ciliary dyskinesia (PCD), a genetically heterogeneous condition enriched in some consanguineous populations, results from recessive mutations affecting cilia biogenesis and motility. Currently, diagnosis requires multiple expert tes