<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

• Päätekijät: Zicari Anna (Tekijä), Tarani Luigi (Tekijä), Perotti Daniela (Tekijä), Papetti Laura (Tekijä), Nicita Francesco (Tekijä), Liberati Natascia (Tekijä), Spalice Alberto (Tekijä), Salvatori Guglielmo (Tekijä), Guaraldi Federica (Tekijä), Duse Marzia (Tekijä)
• Aineistotyyppi: Kirja
• Julkaistu: BMC, 2012-06-01T00:00:00Z.
• Aiheet: article
• Linkit: 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...