Inflammatory bowel disease in families with four or more affected first-degree relatives
Sign Up to like & getrecommendations! Published in 2022 at "Scandinavian Journal of Gastroenterology"
DOI: 10.1080/00365521.2022.2106153
Abstract: Abstract Background Family history increases the risk for inflammatory bowel diseases (IBDs). However, data on differences in phenotypic characteristics among patients with a strong family history of IBD are scarce and controversial. The aim of… read more here.
Keywords: four affected; ibd; disease; inflammatory bowel ... See more keywords
Genomic, Proteomic, and Phenotypic Spectrum of Novel O-Sialoglycoprotein Endopeptidase Variant in Four Affected Individuals With Galloway-Mowat Syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.806190
Abstract: Galloway-Mowat syndrome is a rare autosomal recessive disease characterized by a unique combination of renal and neurological manifestations, including early-onset steroid-resistant nephrotic syndrome, microcephaly, psychomotor delay, and gyral abnormalities of the brain. Most patients die… read more here.
Keywords: four affected; affected individuals; sialoglycoprotein endopeptidase; mowat syndrome ... See more keywords