Intrafamilial Phenotypic Variability In Two Siblings With Primary Ciliary Dyskinesia Due To Homozygous Loss Of Function Mutation In The Ccdc151 Gene
ISRAEL MEDICAL ASSOCIATION JOURNAL（2020）
关键词
autosomal recessive, CCDC151 gene, genotype-phenotype correlation, primary ciliary dyskinesia (PCD), situs inversus
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