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Background
Despite the growing awareness of cystic fibrosis (CF) in China, few cases have been reported in Henan, which is the most populous province in the country. This study aimed to describe the clinical phenotype and genotype of children with CF in Henan.
Methods
We retrospectively recruited 18 Chinese children with CF who presented to Children's Hospital affiliated to Zhengzhou University...
This report describes a case of an 11‐year‐old Chinese boy with cystic fibrosis (CF) bearing the c.1521_1523delCTT/c.3874‐4522A>G genotype, an extremely rare CF genotype in the Chinese population. Notably, the deep intron mutation c.3874‐4522A>G, which has mainly been reported in patients with phenotypically mild CF, is identified here for the first time in a Chinese patient with severe CF....