Case Report: Diagnosis of Mucopolysaccharidosis Type IVA With Compound Heterozygous Galactosamine-6 Sulfatase Variants and Biopsy of Replaced Femoral Heads
PMID: 35859948
Gene: GALNS
Disease: Mucopolysaccharidosis IVA
MonDO: MONDO:0009659
InheritancePattern: AR
Notes: Case Report