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Hearing impairment in Stickler syndrome: a systematic review

BACKGROUND: Stickler syndrome is a connective tissue disorder characterized by ocular, skeletal, orofacial and auditory defects. It is caused by mutations in different collagen genes, namely COL2A1, COL11A1 and COL11A2 (autosomal dominant inheritance), and COL9A1 and COL9A2 (autosomal recessive inhe...

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Detalles Bibliográficos
Autores principales: Acke, Frederic R E, Dhooge, Ingeborg J M, Malfait, Fransiska, De Leenheer, Els M R
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3551705/
https://www.ncbi.nlm.nih.gov/pubmed/23110709
http://dx.doi.org/10.1186/1750-1172-7-84