Expanding the Phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome
Gholson J. Lyon, Marall Vedaie, Travis Besheim, Agnes Y. Park, Elaine J. Marchi, Leah Gottlieb, Tzung‐Chien Hsieh, Hannah Klinkhammer, Katherine Sandomirsky, Hanyin Cheng, Lois Janelle Starr, Isabelle Preddy, Marcellus Tseng, Quan Li, Yu Hu, , 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.
medRxiv · Aug 22, 2022 · PreprintGenetic & Genomic Medicine