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Homozygous variant in OTX2 and possible genetic modifiers identified in a patient with combined pituitary hormone deficiency, ocular involvement, myopathy, ataxia, and mitochondrial impairment
Catania, Alessia, Legati, Andrea, Peverelli, Lorenzo, Nanetti, Lorenzo, Marchet, Silvia, Zanetti, Nadia, Lamperti, Costanza, Ghezzi, DanieleJournal:
American Journal of Medical Genetics Part A
DOI:
10.1002/ajmg.a.61092
Date:
February, 2019
File:
PDF, 926 KB
2019