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

Internet

http://www.ijponline.net/content/38/1/27

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