PMC8603824_01
Hand X-ray image. Full arrows show coned epiphyses. Dashed arrows show the premature closure growth plates due to coned epiphyses.
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F1
The X-ray showed coned epiphyses of the fingers of her hand (Figure 1).
Two heterozygous TTC21B variants found in the patient. Sequencing of maternal sample revealed p.Pro209Leu heterozygous variant, but not the novel p.Cys14Arg variant. The image was obtained by Geneious Prime software (Biomatters, Ltd., New Zealand).
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F2
NP_079029.3) (Figure 2). The evidence of pathogenicity by prediction programs was determined: UMD predictor = Pathogenic,
Clinical course of the patient.
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F3
A timeline illustrates the course of the disease for our patient (Figure 3).