Frequency of Cystic Fibrosis Transmembrane Conductance Regulator Variants in Individuals Evaluated for Primary Ciliary Dyskinesia - Hannah, William B.; Truty, Rebecca; Gonzales, Virginia; Kithcart, Gregory P.; Ouyang, Karen; Zeman, Michelle K.; Li, Chun; Drumm, Mitchell; Nykamp, Keith; Gaston, Benjamin M. (The Journal of pediatrics, 2019)
Keywords: CFTR; Ciliary Motility Disorders - diagnosis; Ciliary Motility Disorders - etiology; Ciliary Motility Disorders - genetics; cystic fibrosis; Cystic Fibrosis - complications; Cystic Fibrosis - diagnosis; Cystic Fibrosis - genetics; Cystic Fibrosis Transmembrane Conductance Regulator - genetics; Cystic Fibrosis Transmembrane Conductance Regulator - metabolism; DNA Mutational Analysis; Female; Follow-Up Studies; Genetic Testing - methods; Humans; Infant, Newborn; Male; Mutation; Prevalence; primary ciliary dyskinesia; Retrospective Studies; PCD; CF; TG; VUS; cystic fibrosis; polyT; CRMS; primary ciliary dyskinesia; CFTR