Figure 3From: WTX R353X mutation in a family with osteopathia striata and cranial sclerosis (OS-CS): case report and literature review of the disease clinical, genetic and radiological featuresX-ray of the patient’s femur showing OS-CS typical bone longitudinal striations (a). Sequence analysis of WTX gene performed on peripheral blood leukocytes in the patient (panel A) and her mother (panel B) showing the heterozygous nonsense mutation 1057C>T (arrows) (b).Back to article page