Clinical and genetic features of primary ciliary dyskinesia in a cohort of consecutive clinically suspect children in western China

• প্রধান লেখক: Ying Li (লেখক), Wenlong Fu (লেখক), Gang Geng (লেখক), Jihong Dai (লেখক), Zhou Fu (লেখক), Daiyin Tian (লেখক)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: BMC, 2022-07-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: Connect to this object online.

Abstract Background Primary ciliary dyskinesia (PCD) is a rare, inherited disorder of the motile cilia that exhibits genetic and clinical heterogeneity among different populations. PCD diagnosis remains challenging owing to the heterogeneity of associated clinical features and lack of a gold standar...