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,...

Descrición completa

Gardado en:
Detalles Bibliográficos
Main Authors: Zicari, Anna Maria, Tarani, Luigi, Perotti, Daniela, Papetti, Laura, Nicita, Francesco, Liberati, Natascia, Spalice, Alberto, Salvatori, Guglielmo, Guaraldi, Federica, Duse, Marzia
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2012
Assuntos:
Review
Acceso en liña: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
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!

Títulos similares