<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

<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)
Format: Book
Published: BMC, 2012-06-01T00:00:00Z.
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3rd Floor Main Library

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