A novel mutation in the human RAX gene in patients with microphthalmia and coloboma: A case report and literature review. [PDF]
Li Z, Ke S, Wan W, Sun J, Hu K, Li C.
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Presentation of Bilateral Optic Disc Coloboma-Morning Glory Syndrome in Mother and Son, with Retinitis Pigmentosa in the Father. [PDF]
İslambekov Y, Çakır B, Ateş K.
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Isolated Lenticular Coloboma in an Atypical Location With Early Cataract Formation: A Case Report. [PDF]
Noori SH, Nomikarios M, Anikina E.
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Prevalence of sight-threatening ocular abnormalities identified by retinal examination in neonates: a systematic review and meta-analysis. [PDF]
Anne RP, Mathai SS, S S.
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Dental Management of CHARGE Syndrome Under General Anaesthesia: A Case Report. [PDF]
Iqbal S +5 more
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Intragenic loss-of-function variants in transcription factors <i>MAZ</i>, <i>FOXP1</i> and <i>SIN3B</i> in colobomatous microphthalmia. [PDF]
Seese SE +4 more
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Treatment of bilateral infantile-onset glaucoma associated with Cat Eye Syndrome. [PDF]
Tea H, Liu J, Saleem Z, Freedman SF.
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Ophthalmic screening in phakomatoses. [PDF]
Kikani B, Stanley S, Ramasubramanian A.
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Sutureless capsular bag-intraocular lens complex scleral fixation using iris retractors in eyes with crystalline lens subluxation: long-term outcome. [PDF]
Błagun N, Krix-Jachym K, Rekas M.
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Variants in the CxxC domain of the epigenetic regulator KDM2B support its role in developmental eye anomalies. [PDF]
Ceroni F +12 more
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