Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing

Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing

Abstract Somatic mosaicism produces genetic differences between cells in an individual and is an underrecognized contributor to phenotypic variability. Precise understanding of the natural history of genetic diseases, therefore, requires detection and recognition of low-level mosaicism, which remain...

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Main Authors: Alexandra C. Keefe, Dana M. Jensen, Meranda M. Pham, Natalie Y T Au, Erika Beckman, Monica Penon-Portmann, Emily Shelkowitz, Renee Bend, Michelle M. Morrow, Paul Kruszka, Divya Vats, Bianca E. Russell, Erica Chan, Derek Wong, Ahna Rabani, Lauren O’Grady, Inderneel Sahai, Kimberly Widmeyer, Ethan D. Sperry, Barbara E. Hallinan, Rebecca Tryon, Troy C. Lund, Florian S. Eichler, Angela Sun, James T. Bennett
Format: Article
Language:English
Published: Nature Portfolio 2025-05-01
Series:npj Genomic Medicine
Online Access:https://doi.org/10.1038/s41525-025-00497-1
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https://doi.org/10.1038/s41525-025-00497-1

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