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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...

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Detalhes bibliográficos
Publicado no:Balkan J Med Genet
Main Authors: Saleha, S, Ajmal, M, Zafar, S, Hameed, A
Formato: Artigo
Idioma:Inglês
Publicado em: De Gruyter 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5026283/
https://ncbi.nlm.nih.gov/pubmed/27785411
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1515/bjmg-2016-0010
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