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

Mabrouk, I; Al-Harthi, N; Mani, R; Montantin, G; Tissier, S; Lagha, R; Ben Abdallah, F; Hassan, MM; Alhomrani, M; Gaber, A; Alsanie, WF; Ouali, H; Jambi, FA; Almaghamsi, TM; Alqarni, NA; Alfarsi, NA; Kashgari, K; Al-Zahrani, HJ; Al-Shamary, ZA; Al-Harbi, A; Amselem, S; Escudier, E; Legendre, M

Mabrouk, I (通讯作者)，Taif Univ, Coll Sci, Dept Biol, At Taif 21944, Saudi Arabia.

JOURNAL OF HUMAN GENETICS, 2022; 67 (7): 381

Abstract

Primary ciliary dyskinesia (PCD) is a clinically and genetically heterogeneous ciliopathy. Dysfunction of motile respiratory and nodal cilia results i......

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