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Kearns-Sayre syndrome with optic nerve atrophy phenotype: A possible biological and clinical concurrence of two mutations?
Published: March 1, 20221222PDF: 290 -
Chiari I malformation in a Waardenburg phenotype with multiple malformations and 1q21.1 microdeletion
Published: January 13, 2021597PDF: 319 -
Chiari I malformation, syringomyelia and papilledema: a malformative complex connected to oculo-auriculo-vertebral spectrum
Published: March 8, 20191007PDF: 441
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