P043: RNA sequencing aids in the molecular diagnosis of mucopolysaccharidosis IVA: A case report

Genetics in Medicine Open 2026 Open access

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Authors: Jay Shaw, Shoji Yano, James Zdrodowski, Mitchell W. Dillon, Elina Nikkola, Zhenbin Chen, Hanlin Gao

DOI: 10.1016/j.gimo.2026.103534

Cited by: 0

Fields of Study & Subjects

Lysosomal Storage Disorders Research Metabolism and Genetic Disorders Glycogen Storage Diseases and Myoclonus