Research Article

Whole-Exome Sequencing Identified a Novel Compound Heterozygous Mutation of LRRC6 in a Chinese Primary Ciliary Dyskinesia Patient

Figure 1

The clinic and genetic data of the proband. (a) Pedigree of the family affected with PCD. Squares indicate male family members; circles, female members; arrow, proband. (b) Sinus Computed Tomography (CT) revealed chronic sinusitis in the proband. (c) CT scans of the lung presented diffuse bronchiectasis of the proband. (d) Sequencing results of c.183T>G/p.N61K mutation in LRRC6. (e) Sequencing results of c.179-1G>A mutation in LRRC6.
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