<it>WTX</it> 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
<p>Abstract</p> <p>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...
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Main Authors: | Zicari Anna (Author), Tarani Luigi (Author), Perotti Daniela (Author), Papetti Laura (Author), Nicita Francesco (Author), Liberati Natascia (Author), Spalice Alberto (Author), Salvatori Guglielmo (Author), Guaraldi Federica (Author), Duse Marzia (Author) |
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Format: | Book |
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BMC,
2012-06-01T00:00:00Z.
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