<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

• Үндсэн зохиолчид: Zicari Anna (Зохиогч), Tarani Luigi (Зохиогч), Perotti Daniela (Зохиогч), Papetti Laura (Зохиогч), Nicita Francesco (Зохиогч), Liberati Natascia (Зохиогч), Spalice Alberto (Зохиогч), Salvatori Guglielmo (Зохиогч), Guaraldi Federica (Зохиогч), Duse Marzia (Зохиогч)
• Формат: Ном
• Хэвлэсэн: BMC, 2012-06-01T00:00:00Z.
• Нөхцлүүд: article
• Онлайн хандалт: 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...