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Significant ophthalmoarthropathy associated with ectodermal dysplasia in a child with Marshall-Stickler overlap: a case report
BACKGROUND: The Marshall-Stickler phenotype is an autosomal dominant trait comprising ocular abnormalities, sensorineural hearing loss, craniofacial anomalies, and anhidrotic ectodermal dysplasia. CASE PRESENTATION: A 5-year-old boy from non-consanguineous family in Austria was born with features of...
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| Autores principales: | , , , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
BioMed Central
2008
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2579916/ https://ncbi.nlm.nih.gov/pubmed/18950500 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1757-1626-1-270 |
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