Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment - npj Genomic Medicine

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Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment - npj Genomic Medicine

Autophagy regulates the degradation of damaged organelles and protein aggregates, and is critical for neuronal development, homeostasis, and maintenance, yet few neurodevelopmental disorders have been associated with pathogenic variants in genes encoding autophagy-related proteins. We report three individuals from two unrelated families with a neurodevelopmental disorder characterized by speech and motor impairment, and similar facial characteristics.

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Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment - npj Genomic Medicine

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Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment - npj Genomic Medicine

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