CCDC40 mutation as a cause of primary ciliary dyskinesia: a case report and review of literature

Background and Aims Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous disorder. Genetic defects affecting motility of cilia and flagella cause chronic destructive airway disease, situs inversus and, frequently, male infertility in PCD. To date, although several genes have been im...

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Veröffentlicht in:	The clinical respiratory journal 2016-09, Vol.10 (5), p.614-621
Hauptverfasser:	Sui, Weiguo, Hou, Xianliang, Che, Wenti, Ou, Minglin, Sun, Guoping, Huang, Shengxing, Liu, Fuhua, Chen, Peng, Wei, Xiaolian, Dai, Yong
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Defects Exome exome sequencing Genes Genetic Predisposition to Disease Humans Infertility Infertility, Male - genetics Kartagener Syndrome - diagnosis Kartagener Syndrome - genetics Male Motility Mutation Polymorphism, Single Nucleotide primary ciliary dyskinesia Proteins - genetics respiratory bronchiolitis situs inversus Sperm
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