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 features

DOI: 10.1186/1824-7288-38-27

Keywords: Osteopathia striata, Cranial sclerosis, Horan-Beighton syndrome, WTX, Bone dysplasia

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