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

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

Abstract 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 overv...

Cur síos iomlán

Sonraí bibleagrafaíochta
Príomhchruthaitheoirí: Lili Dong, Lei Zhang, Xiao Li, Shiyue Mei, Yuelin Shen, Libing Fu, Shunying Zhao, Xiaolei Tang, Yu Tang
Formáid: Alt
Teanga:English
Foilsithe / Cruthaithe: BMC 2023-12-01
Sraith:BMC Pediatrics
Ábhair:
Primary ciliary dyskinesia
Dynein axonemal assembly factor
Genotype
Variant
Chinese
Rochtain ar líne:https://doi.org/10.1186/s12887-023-04185-w

Ar líne

https://doi.org/10.1186/s12887-023-04185-w

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