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Gene mapping in an anophthalmic pedigree of a consanguineous Pakistani family opened new horizons for research
Clinical anophthalmia is a rare inherited disease of the eye and phenotype refers to the absence of ocular tissue in the orbit of eye. Patients may have unilateral or bilateral anophthalmia, and generally have short palpebral fissures and small orbits. Anophthalmia may be isolated or associated with...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
De Gruyter
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5026283/ https://www.ncbi.nlm.nih.gov/pubmed/27785411 http://dx.doi.org/10.1515/bjmg-2016-0010 |