Article

Analysis of Genomic Ancestry and Characterization of a New Variant in MPS Type VII

2023-09-11

Abstract excerpt

<title>Abstract</title> <p>Background Mucopolysaccharidosis (MPS) type VII is a storage disorder of autosomal recessive origin caused by a deficiency in a lysosomal enzyme that results in accumulation of glycosaminoglycans and in secondary metabolic pathway problems. It has systemic symptomatology that mainly includes progressive skeletal dysplasia, cardiovascular manifestations, hepatosplenomegaly, coarse facie...

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Literature Corpus work: f44db231-bd83-50b2-9b6a-91a361383568
DOI: 10.21203/rs.3.rs-3098196/v1

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