Clinical and genetic analysis of two patients with primary ciliary dyskinesia caused by a novel variant of DNAAF2

BACKGROUND: The study describes the clinical manifestations and variant screening of two Chinese siblings with primary ciliary dyskinesia (PCD). They carry the same DNAAF2 genotype, which is an extremely rare PCD genotype in the Chinese population. In addition, the study illustrated an overview of p...

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Detalles Bibliográficos
Autores principales: Dong, Lili, Zhang, Lei, Li, Xiao, Mei, Shiyue, Shen, Yuelin, Fu, Libing, Zhao, Shunying, Tang, Xiaolei, Tang, Yu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10696777/
http://dx.doi.org/10.1186/s12887-023-04185-w

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