Article
Combining RSPH9 founder mutation screening and next-generation sequencing analysis is efficient for primary ciliary dyskinesia diagnosis in Saudi patients.
Journal of human genetics - 1 Jul 2022
Mabrouk Imed, Al-Harthi Nawal, Mani Rahma, Montantin Guy, Tissier Sylvie, Lagha Rihab, Ben Abdallah Fethi, Hassan Mohamad M, Alhomrani Majid, Gaber Ahmed, Alsanie Walaa F, Ouali Hanadi, Jambi Fatma A, Almaghamsi Talal M, Alqarni Nawal A, Alfarsi Nawaf A, Kashgari Khadija, Al-Zahrani Hasna J, Al-Shamary Zamel A, Al-Harbi Abdullah, Amselem Serge, Escudier Estelle, Legendre Marie
Abstract excerpt
Primary ciliary dyskinesia (PCD) is a clinically and genetically heterogeneous ciliopathy. Dysfunction of motile respiratory and nodal cilia results in sinopulmonary symptoms associated with laterality defects (LD) found in half of the patients. The molecular basis of the disease is insufficiently investigated in patients originating from the Arabian Peninsula. In a group of 16 unrelated Saudi patients clinically...
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