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Compound heterozygous missense mutations in a Chinese mucopolysaccharidosis type VI patient: a case report
Mucopolysaccharidosis type VI (MPS VI) is a rare autosomal recessive inherited disease caused by mutations in the arylsulfatase B (ARSB) gene. MPS VI is a multisystemic disease resulting from a deficiency in aryl...
Citation: BMC Ophthalmology 2021 21:214