Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis. Amelia Shoemark , Helen Griffin , Gabrielle Wheway , Claire Hogg , Jane S Lucas , Carme Camps , Jenny Taylor , Mary Carroll , Michael R Loebinger , James D Chalmers , Deborah Morris-Rosendahl , Hannah M Mitchison , Anthony De Soyza , D Brown , J C Ambrose , P Arumugam , R Bevers , M Bleda , F Boardman-Pretty , C R Boustred , H Brittain , M J Caulfield , G C Chan , T Fowler , A Giess , A Hamblin , S Henderson , T J P Hubbard , R Jackson , L J Jones , D Kasperaviciute , M Kayikci , A Kousathanas , L Lahnstein , S E A Leigh , I U S Leong , F J Lopez , F Maleady-Crowe , M McEntagart , F Minneci , L Moutsianas , M Mueller , N Murugaesu , A C Need , P O'Donovan , C A Odhams , C Patch , D Perez-Gil , M B Pereira , J Pullinger , T Rahim , A Rendon , T Rogers , K Savage , K Sawant , R H Scott , A Siddiq , A Sieghart , S C Smith , A Sosinsky , A Stuckey , M Tanguy , A L Taylor Tavares , E R A Thomas , S R Thompson , A Tucci , M J Welland , E Williams , K Witkowska , S M Wood The European respiratory journal（2022）
摘要
PCD is underdiagnosed as a cause of bronchiectasis. Increased uptake of genetic testing may help to identify bronchiectasis due to motile ciliopathies and ensure appropriate management.
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关键词
primary ciliary dyskinesia, bronchiectasis
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