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Zi-Heng Li

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Review Open access Sep 2026

Inheritance-dependent genotype–phenotype architecture in DEAF1-associated neurodevelopmental disorders: five unrelated patients with de novo DEAF1 variants and an updated synthesis of 67 individuals

The study refines the de novo clinical and allelic spectrum of DAND and delineates inheritance-specific genotype–phenotype architecture with developmental and cellular context and supported brain-enriched, developmentally regulated DEAF1 expression and broad neuronal/progenitor expression in human brain organoids.

Ang Ma, Gen-Fu Zhang, Yue Niu et al. · 0 citations

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