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
Osteopathia striata with cranial sclerosis (OS-CS) or Horan-Beighton syndrome is a rare X-linked dominant inherited bone dysplasia, characterized by longitudinal striations of long bones and cranial sclerosis. Patients can be asymptomatic or present with typical facial dysmorphism, sensory defects,...
| Main Authors: | , , , , , , , , , |
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| Format: | Online |
| Language: | English |
| Published: |
BioMed Central
2012
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3416731/ |