Browsing by Author "Kalyva, Margarita"
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Article
Wide phenotypic variability in RSPH9-associated primary ciliary dyskinesia: review of a case-series from Cyprus
Yiallouros, Panayiotis K.; Kouis, Panayiotis; Pirpa, Panayiota; Michailidou, Kyriaki; Loizidou, Maria A.; Potamiti, Louiza; Kalyva, Margarita; Koutras, Giorgos; Kyriacou, Kyriacos; Hadjisavvas, Andreas (2019)Background: Primary ciliary dyskinesia (PCD) is an inherited ciliary motility disorder caused by mutations in at least 40 genes. RSPH9 gene mutations encoding aberrant radial spoke head proteins have been linked with PCD. ...