Clinical and molecular spectrum of mucopolysaccharidosis IVA in Iraqi children: Allele-specific genotype-phenotype trends and novel GALNS variants
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Background: Mucopolysaccharidosis type IVA (MPS IVA; Morquio A syndrome) is a rare lysosomal storage disorder that causes early-onset skeletal dysplasia and progressive multisystem involvement. Although international cohorts have... ...
