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Achondroplasia and Macular Coloboma
Achondroplasia is an autosomal dominant congenital disorder of enchondral ossification. It is clinically characterized by low stature, craniofacial deformity, and vertebral malformation. Associated ophthalmic features include telecanthus, exotropia, angle anomalies, and cone-rod dystrophy. A 24-year...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications & Media Pvt Ltd
2015
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4660545/ https://www.ncbi.nlm.nih.gov/pubmed/26692730 http://dx.doi.org/10.4103/0974-9233.167819 |