Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing.
Keefe AC, Jensen DM, Pham MM, Au NYT, Beckman E, Penon-Portmann M, Shelkowitz E, Bend R, Morrow MM, Kruszka P, Vats D, Russell BE, Chan E, Wong D, Rabani A, O'Grady L, Sahai I, Widmeyer K, Sperry ED, Hallinan BE, Tryon R, Lund TC, Eichler FS, Sun A, Bennett JT. Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing. NPJ Genom Med. 2025 May 09; 10(1):38.