WTX 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

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 facial dysmorphism, sensory defects,...

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Autors principals: Zicari, Anna Maria, Tarani, Luigi, Perotti, Daniela, Papetti, Laura, Nicita, Francesco, Liberati, Natascia, Spalice, Alberto, Salvatori, Guglielmo, Guaraldi, Federica, Duse, Marzia
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2012
Matèries:
Review
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3416731/
https://ncbi.nlm.nih.gov/pubmed/22716240
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1824-7288-38-27
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