Loss of function variants in HPDL impair human cortical development via alterations of mitochondrial function.

In addition, we detected a decreasing trend in the shared area of TUBB3 and Nestin signals (significant for both Patient 1 and 2; Fig. 3D ), excluding the possibility that cortical cells remain blocked in a hybrid progenitor-neuron state, in which committed progenitors initiate differentiation without fully exiting from proliferation, ultimately validating occurrence of premature neurogenesis in mutant cells.

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