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Wide phenotypic variability in RSPH9-associated primary ciliary dyskinesia: review of a case-series from Cyprus

Yiallouros, PK; Kouis, P; Pirpa, P; Michailidou, K; Loizidou, MA; Potamiti, L; Kalyva, M; Koutras, G; Kyriacou, K; Hadjisavvas, A

Yiallouros, PK (reprint author), Shakolas Educ Ctr Clin Med, Palaios Dromos Lefkosias Lemesou 215-6, CY-2029 Aglantzia, Cyprus.; Kyriacou, K (reprint author), Cyprus Inst Neurol & Genet, 6 Int Airport Ave, CY-2370 Nicosia, Cyprus.

JOURNAL OF THORACIC DISEASE, 2019; 11 (5): 2067

Abstract

Background: Primary ciliary dyskinesia (PCD) is an inherited ciliary motility disorder caused by mutations in at least 40 genes. RSPH9 gene mutations ......

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