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Ellis van Creveld syndrome with unusual association of essential infantile esotropia
Ellis-van Creveld syndrome is a rare short-limbed disproportionate dwarfism characterized by postaxial polydactyly, several skeletal, oral mucosal and dental anomalies, nail dysplasia and in 50-60% cases of congenital cardiac defects. It is an autosomal recessive disorder with mutations of the EVC1...
| Autores principales: | , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Medknow Publications
2010
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2886224/ https://www.ncbi.nlm.nih.gov/pubmed/20606869 http://dx.doi.org/10.4103/0974-620X.60017 |