Journal
CLINICAL CASE REPORTS
Volume 9, Issue 2, Pages 790-795Publisher
WILEY
DOI: 10.1002/ccr3.3644
Keywords
clinical exome sequencing; glycosaminoglycans; Mucopolysaccharidosis VII; prenatal diagnosis; Sly syndrome; beta-glucuronidase
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Clinical exome sequencing is a powerful tool that can help overcome the wide clinical and genetic heterogeneity of mucopolysaccharidosis, providing valuable data for prenatal diagnosis of MPS VII, genetic counseling, and preimplantation genetic testing.
Clinical exome sequencing is a powerful approach to overcome the wide clinical and genetic heterogeneity of mucopolysaccharidosis. These data could be useful for prenatal diagnosis of MPS VII, genetic counseling, and preimplantation genetic testing.
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