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A Chinese family with Axenfeld-Rieger syndrome: report of the clinical and genetic findings
AIM: To describe a Chinese family affected by a severe form of Axenfeld-Rieger syndrome (ARS) and characterize the molecular defect in PITX2 in the family. METHODS: Patients presented with typical ARS from a Chinese family were investigated. We performed genome-wide linkage scan and exome sequencing...
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| Publicat a: | Int J Ophthalmol |
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| Autors principals: | , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
International Journal of Ophthalmology Press
2017
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5515146/ https://ncbi.nlm.nih.gov/pubmed/28730073 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.18240/ijo.2017.06.04 |
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