Early genetic analysis by next-generation sequencing improves diagnosis of primary ciliary dyskinesia

被引：4
作者：
Petrarca, Laura [1 ,2 ,9 ]
De Luca, Alessandro [3 ]
Nenna, Raffaella [2 ]
Hadchouel, Alice [4 ,5 ,6 ]
Mazza, Tommaso [7 ]
Conti, Maria Giulia [2 ]
Masuelli, Laura [8 ]
Midulla, Fabio [2 ]
Guida, Valentina [3 ]
机构：
[1] Sapienza Univ Rome, Dept Translat & Precis Med, Rome, Italy
[2] Sapienza Univ Rome, Dept Maternal Infantile & Urol Sci, Rome, Italy
[3] Fdn IRCCS Casa Sollievo Sofferenza, Med Genet Div, San Giovanni Rotondo, Italy
[4] Hop Univ Necker Enfants Malad, Ctr Reference Malad Resp Rares Enfant, Serv Pneumol Pediat, AP HP, Paris, France
[5] Univ Paris Cite, Fac Medecine, Paris, France
[6] Inst Necker Enfants Malad INEM, INSERM U1151, Paris, France
[7] Fdn IRCCS Casa Sollievo Sofferenza, Lab Bioinformat, San Giovanni Rotondo, Italy
[8] Sapienza Univ Rome, Dept Mol Med, Rome, Italy
[9] Sapienza Univ Rome, Dept Translat & Precis Med, Dept Maternal Infantile & Urol Sci, Viale Regina Elena 324, I-00161 Rome, Italy
来源：
PEDIATRIC PULMONOLOGY | 2023年 / 58卷 / 10期
关键词：
atelectasis; CCNO; European respiratory society guidelines; next generation sequencing; Primary ciliary dyskinesia; VARIANTS;
D O I：
10.1002/ppul.26604
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
引用
收藏
页码：2950 / 2953
页数：4
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