Expanding the Phenotypic Spectrum of Pathogenic KIAA0586 Variants: From Joubert Syndrome to Hydrolethalus Syndrome.

Autor: Deconte, Desirée1 (AUTHOR) desideconte@gmail.com, Diniz, Bruna Lixinski1 (AUTHOR) bruldiniz@gmail.com, Hartmann, Jéssica K.2 (AUTHOR) jekarineh1997@gmail.com, de Souza, Mateus A.2 (AUTHOR) mateuss@ufcspa.edu.br, Zottis, Laira F. F.2 (AUTHOR) lairazottis@gmail.com, Zen, Paulo Ricardo Gazzola3 (AUTHOR) paulozen@ufcspa.edu.br, Rosa, Rafael F. M.3 (AUTHOR), Fiegenbaum, Marilu4 (AUTHOR) mariluf@ufcspa.edu.br
Zdroj: International Journal of Molecular Sciences. Jul2024, Vol. 25 Issue 14, p7900. 7p.
Databáze: Academic Search Ultimate
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