Fig. 1: Growth charts, head image findings, and audiogram of this patient. | Human Genome Variation

Fig. 1: Growth charts, head image findings, and audiogram of this patient.

From: A mild case of Cockayne syndrome with a novel start-loss variant of ERCC8

Fig. 1

A–C Height, weight, and head circumference of this patient compared to Japanese girls with mean and SD values20. D Head CT image showed calcification of the striatum. E Head MRI (T2 weighted) showed cerebellar atrophy. F The audiogram showed moderate bilateral sensorineural hearing loss. BC bone conduction, AC air conduction.

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