PMC4681981_01
(A) Chest radiograph: symmetric pattern of diffuse fine micronodules in both lungs. (B-C) HRCT images: diffuse symmetric pattern of microlithiasis, consisting of both discrete nodules and areas of ground glass attenuation of the lung parenchyma.
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Based on these findings, a high resolution computed tomography scan was performed (Fig. 1B-C) that revealed a diffuse symmetric pattern of microlithiasis, consisting of both discrete nodules and areas of ground glass attenuation of the lung parenchyma.
(A) Family pedigree. The proband (IV-2) is indicated by an arrow. (B) DNA sequences of SLC34A2, exon 3 from the homozygous proband and the heterozygous son V-5, as indicated. The wild type sequence corresponds to NCBI NM_006424.
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ENSG00000157765) that caused a frameshift resulting in a truncated protein at codon 95 (Fig. 2B).