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: Hizem S, Elaribi Y, Ben Slama S, Dimassi K, Jilani H, Rejeb I, Sebai M, Bekri S, Ben Jemaa L Tags: Clin Chim Acta Source Type: research