<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...
Main Authors: | Zicari Anna, Tarani Luigi, Perotti Daniela, Papetti Laura, Nicita Francesco, Liberati Natascia, Spalice Alberto, Salvatori Guglielmo, Guaraldi Federica, Duse Marzia |
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Format: | Article |
Language: | English |
Published: |
BMC
2012-06-01
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Series: | Italian Journal of Pediatrics |
Subjects: | |
Online Access: | http://www.ijponline.net/content/38/1/27 |
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