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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...

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Detalles Bibliográficos
Autores principales: Ahoor, M. H., Amizadeh, Y., Sorkhabi, R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2015
Materias:
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