CEDIE

Centro de Investigaciones Endocrinológicas “Dr. César Bergadá” (Consejo Nacional de Investigaciones Científicas y Técnicas - FEI, División Endrocrinología, - Htal. de Niños Ricardo Gutiérrez)

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Funding and acknowledgements

Translational Medicine at Hospital de Niños Dr Ricardo Gutiérrez

VHL-P138R and VHL-L163R novel variants: mechanisms of VHL pathogenicity involving HIF-dependent and HIF-independent actions

Applying Bioinformatic Platforms, In Vitro, and In Vivo Functional Assays in the Characterization of Genetic Variants in the GH/IGF Pathway Affecting Growth and Development