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Intrafamilial Phenotypic Variability in Two Siblings with Primary Ciliary Dyskinesia Due to Homozygous Loss of Function Mutation in the CCDC151 Gene.

Autor: Abu Hanna F; Department of Pediatric B, Emek Medical Center, Afula, Israel., Prais D; Pulmonary Institute, Schneider Children's Medical Center of Israel, Petah Tikva, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Zehavi Y; Department of Pediatric B, Emek Medical Center, Afula, Israel., Sakran W; Department of Pediatric B, Emek Medical Center, Afula, Israel.; Rappaport School of Medicine, Technion-Israel Institute of Technology, Haifa, Israel., Spiegel R; Department of Pediatric B, Emek Medical Center, Afula, Israel.; Rappaport School of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.

Publikováno v: The Israel Medical Association journal : IMAJ [Isr Med Assoc J] 2020 Apr; Vol. 22 (4), pp. 260-262.