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International consensus guideline for reporting transmission electron microscopy results in the diagnosis of primary ciliary dyskinesia (BEAT PCD TEM Criteria)

Shoemark, Amelia ; Boon, Mieke ; Brochhausen, Christoph ; Bukowy-Bieryllo, Zuzanna ; De Santi, Maria M. ; Goggin, Patricia ; Griffin, Paul ; Hegele, Richard G. ; Hirst, Robert A. ; Leigh, Margaret W. ; Lupton, Alison ; MacKenney, Karen ; Omran, Heymut ; Pache, Jean-Claude ; Pinto, Andreia ; Reinholt, Finn P. ; Schroeder, Josep ; Yiallouros, Panayotis ; Escudier, Estelle



Abstract

Primary ciliary dyskinesia (PCD) is a heterogeneous genetic condition. European and North American diagnostic guidelines recommend transmission electron microscopy (TEM) as one of a combination of tests to confirm a diagnosis. However, there is no definition of what constitutes a defect or consensus on reporting terminology. The aim of this project was to provide an internationally agreed ...

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