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Keratoglobus with ARCL1B (EFEMP2 gene) cutis laxa
PURPOSE: To report a case of keratoglobus in a patient with autosomal recessive (AR) cutis laxa. OBSERVATIONS: A 38 year old male presented with decreased vision in both eyes uncorrectable with spectacles and a history of corneal rupture in the left eye from incidental trauma a decade prior. His ocu...
Autores principales: | Mauger, Thomas F., Mundy, Chantelle L., Oostra, Tyler D., Patel, Pratik J. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6551565/ https://www.ncbi.nlm.nih.gov/pubmed/31194159 http://dx.doi.org/10.1016/j.ajoc.2019.100477 |
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