Mucopolysaccharidosis type VII as a cause of recurrent non-immune hydrops fetalis: The first Tunisian case confirmed by next-generation sequencing.

In this report, we describe the first Tunisian case of Mucopolysaccharidosis type VII caused by a homozygous mutation in the GUSB gene confirmed by a next-generation sequencing gene panel in a patient with recurrent Non-immune hydrops fetalis. PMID: 33382994 [PubMed - as supplied by publisher]
Source: International Journal of Clinical Chemistry - Category: Chemistry Authors: Tags: Clin Chim Acta Source Type: research