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Biallelic mutations of CFAP74 may cause human primary ciliary dyskinesia and MMAF phenotype

Yanwei Sha, Xiaoli Wei, Lu Ding, Zhiyong Ji, Libin Mei, Xianjing Huang, Zhiying Su, Wenrong Wang, Xuequan Zhang, Shaobin Lin

2020Journal of Human Genetics58 citationsDOI

Topics & Concepts

Primary ciliary dyskinesiaCompound heterozygosityMale infertilityIntracytoplasmic sperm injectionBiologyExonExome sequencingABCA4GeneticsAsthenozoospermiaMutationInfertilityPhenotypeGeneIn vitro fertilisationEmbryoMedicinePregnancyInternal medicineLungBronchiectasisPrenatal Screening and DiagnosticsCystic Fibrosis Research AdvancesGenetic and Kidney Cyst Diseases
Biallelic mutations of CFAP74 may cause human primary ciliary dyskinesia and MMAF phenotype | Litcius