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

• Egile Nagusiak: Ying Li (Egilea), Wenlong Fu (Egilea), Gang Geng (Egilea), Jihong Dai (Egilea), Zhou Fu (Egilea), Daiyin Tian (Egilea)
• Formatua: Liburua
• Argitaratua: BMC, 2022-07-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: 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...