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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...

詳細記述

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書誌詳細
出版年:Am J Ophthalmol Case Rep
主要な著者: Mauger, Thomas F., Mundy, Chantelle L., Oostra, Tyler D., Patel, Pratik J.
フォーマット: Artigo
言語:Inglês
出版事項: Elsevier 2019
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC6551565/
https://ncbi.nlm.nih.gov/pubmed/31194159
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajoc.2019.100477
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