Combining RSPH9 founder mutation screening and next-generation sequencing analysis is efficient for primary ciliary dyskinesia diagnosis in Saudi patients.

Autor: Mabrouk I; Department of Biology, College of Science, Taif University, Taif, 21944, Saudi Arabia. mabrouk_imed@yahoo.fr., Al-Harthi N; Department of Biology, College of Science, Taif University, Taif, 21944, Saudi Arabia., Mani R; Inserm UMR_S933, Sorbonne Université, Childhood Genetic Disorders, Hôpital Armand-Trousseau, Paris, France.; Unité de recherche UR14ES19, Faculté de Médecine de Sousse, Université de Sousse, Sousse, Tunisia., Montantin G; U.F. de Génétique moléculaire (AP-HP), Sorbonne Université, Hôpital Armand-Trousseau, Paris, France., Tissier S; U.F. de Génétique moléculaire (AP-HP), Sorbonne Université, Hôpital Armand-Trousseau, Paris, France., Lagha R; Department of Biology, College of Science, Taif University, Taif, 21944, Saudi Arabia., Ben Abdallah F; Department of Biology, College of Science, Taif University, Taif, 21944, Saudi Arabia., Hassan MM; Department of Biology, College of Science, Taif University, Taif, 21944, Saudi Arabia., Alhomrani M; Department of Clinical Laboratories Sciences, The Faculty of Applied Medical Sciences, Taif University, Taif, 21944, Saudi Arabia., Gaber A; Department of Biology, College of Science, Taif University, Taif, 21944, Saudi Arabia., Alsanie WF; Department of Clinical Laboratories Sciences, The Faculty of Applied Medical Sciences, Taif University, Taif, 21944, Saudi Arabia., Ouali H; Respiratory Clinic, King Faisal Medical Complex, Taif, 26514-8245, Saudi Arabia., Jambi FA; Pediatric Department, Maternity and Children Hospital, Makkah, Saudi Arabia., Almaghamsi TM; King Faisal Specialist Hospital and Research Center, Jeddah, 23433, Saudi Arabia., Alqarni NA; King Faisal Specialist Hospital and Research Center, Jeddah, 23433, Saudi Arabia., Alfarsi NA; King Faisal Specialist Hospital and Research Center, Jeddah, 23433, Saudi Arabia., Kashgari K; Pediatric Department, Maternity and Children Hospital, Jeddah, 23324, Saudi Arabia., Al-Zahrani HJ; Pediatric Department, Maternity and Children Hospital, Jeddah, 23324, Saudi Arabia., Al-Shamary ZA; Pediatric Department, King Khalid Hospital, Hail, 5032-55421, Saudi Arabia., Al-Harbi A; Pediatric Department, Al Hada Armed Forces Hospital, Taif, Saudi Arabia., Amselem S; Inserm UMR_S933, Sorbonne Université, Childhood Genetic Disorders, Hôpital Armand-Trousseau, Paris, France.; U.F. de Génétique moléculaire (AP-HP), Sorbonne Université, Hôpital Armand-Trousseau, Paris, France., Escudier E; Inserm UMR_S933, Sorbonne Université, Childhood Genetic Disorders, Hôpital Armand-Trousseau, Paris, France.; U.F. de Génétique moléculaire (AP-HP), Sorbonne Université, Hôpital Armand-Trousseau, Paris, France., Legendre M; Inserm UMR_S933, Sorbonne Université, Childhood Genetic Disorders, Hôpital Armand-Trousseau, Paris, France.; U.F. de Génétique moléculaire (AP-HP), Sorbonne Université, Hôpital Armand-Trousseau, Paris, France.

Publikováno v: Journal of human genetics [J Hum Genet] 2022 Jul; Vol. 67 (7), pp. 381-386. Date of Electronic Publication: 2022 Jan 20.