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Journal: Int. J. Mol. Sci., 2024
Volume: 25
Number: 7900

Article: Expanding the Phenotypic Spectrum of Pathogenic KIAA0586 Variants: From Joubert Syndrome to Hydrolethalus Syndrome
Authors: by Desirée Deconte, Bruna Lixinski Diniz, Jéssica K. Hartmann, Mateus A. de Souza, Laira F. F. Zottis, Paulo Ricardo Gazzola Zen, Rafael F. M. Rosa and Marilu Fiegenbaum
Link: https://www.mdpi.com/1422-0067/25/14/7900

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