Homozygous variant in OTX2 and possible genetic modifiers identified in a patient with combined pituitary hormone deficiency, ocular involvement, myopathy, ataxia, and mitochondrial impairment

Alessia Catania, Andrea Legati, Lorenzo Peverelli, Lorenzo Nanetti, Silvia Marchet, Nadia Zanetti, Costanza Lamperti, Daniele Ghezzi

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