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G. A. López-Uriarte

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Aug 2026

Intrafamilial Variability in 2 Siblings With TANGO2-Related Disorder.

Two sisters homozygous for the recurrent TANGO2 variant c.460G>A, identified in a family of Hispanic/Latino ancestry, who exhibited divergent clinical presentations highlight intrafamilial variability within the recognized TDD spectrum and underscore the importance of early recognition of neurologic and endocrine features as potential red flags.

Diego Armando Nájera-Eguía, Estefanía Villarreal-Garza, L. Martínez-de-Villarreal et al. · 0 citations