Genetic & Genomic MedicinemedRxivPreprint
Expanding the Phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome
Gholson J. Lyon, Marall Vedaie, Travis Besheim…·Ellen M. Herr-Israel
The paper expands the phenotypic spectrum of NAA10 and NAA15-related neurodevelopmental syndromes by analyzing clinical data from 106 NAA10 and 66 NAA15 variant carriers, revealing variable severity and multi-system involvement.
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