Homozygous mutation in DNAAF4 causes primary ciliary dyskinesia in a Chinese family
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DOI: 10.3389/fgene.2022.1087818
Abstract: Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder that affects the structure and function of motile cilia, leading to classic clinical phenotypes, such as situs inversus, chronic sinusitis, bronchiectasis, repeated pneumonia and infertility.… read more here.
Keywords: dnaaf4; primary ciliary; mutation dnaaf4; ciliary dyskinesia ... See more keywords