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Poretti-Boltshauser syndrome: a rare differential diagnosis to consider in pediatric high myopia with retinal degeneration

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Nawid Faizi, Ingele Casteels, Bruno Termote, Paul Coucke, Elfride De Baere, Marieke De Bruyne & Irina Balikova. (2022) High myopia and vitreal veils in a patient with Poretti– Boltshauser syndrome due to a novel homozygous LAMA1 mutation. Ophthalmic Genetics 43:5, pages 653-657.
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Articles from other publishers (1)

Deepika C. Parameswarappa, Jenil Sheth & Komal Agarwal. (2023) RETINAL CHANGES IN PORETTI–BOLTSHAUSER SYNDROME: RETINA AS A WINDOW TO THE BRAIN. RETINAL Cases & Brief Reports 17:5, pages 511-514.
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