Autor: Manav Yigit, Z., Erarslan, S. B., Tosun, A., Bozkurt, G., Bolat, H., Unsel Bolat, G.
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Biallelic TTBK1 variant causes a severe syndromic neurodevelopmental disorder: clinical and genetic insights from two siblings
Background Tau-tubulin kinase 1 (TTBK1) is a neuron-enriched kinase implicated in phosphorylation and neurodegeneration. Human phenotypes associated with constitutional TTBK1 variants remain undefined. Methods Two siblings with a severe neurodevelop…