Journal of child neurology
Quadruple the Considerations: Four Genetic Conditions Unveiled in the Setting of Developmental Delays Including a Complex DMD Rearrangement, Telomere Biology Disorder, and Neurodevelopmental Disorders.
Allison G Wheeler, Kaylee Dollerschell, Melissa A Gibbons, Michele L Yang
Published: 202510.1177/08830738251383989
Abstract
We present a patient with dystrophinopathy and additional complex genetic variants to highlight potential challenges in directing the care and discussion of treatment options. A 12-month-old male child presented to neurology with global delays, inclu…
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