<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

• मुख्य लेखकों: Zicari Anna (लेखक), Tarani Luigi (लेखक), Perotti Daniela (लेखक), Papetti Laura (लेखक), Nicita Francesco (लेखक), Liberati Natascia (लेखक), Spalice Alberto (लेखक), Salvatori Guglielmo (लेखक), Guaraldi Federica (लेखक), Duse Marzia (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2012-06-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

<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...